bluuebunny/crossref_metadata_2025 huggingface dataset:
Delayed Puberty
Authors: French Amanda
Published: January 2021

Although common, delayed puberty can be distressing to patients and families.   Careful assessment is necessary to ensure appropriate physical and social development in patients that require intervention to reach pubertal milestones and achieve optimal growth.  Most pubertal delay is from lack of activation of the hypothalamic-pituitary-gonadal axis which then results in a functional or physiologic GnRH deficiency.  The delay may be temporary or permanent.  Constitutional delay (CDGP), also referred to as self-limited delayed puberty (DP), describes children on the extreme end of normal pubertal timing and is the most common cause of delayed puberty, representing about one third of cases.  Hypergonadotropic hypogonadism (primary hypogonadism) results from a failure of the gonad itself, and hypogonadotropic hypogonadism (secondary hypogonadism) results from a failure of the hypothalamic-pituitary axis, which is usually caused by another process, often systemic.  Diagnosis is based on history and examination.  Treatment is based on the underlying cause of pubertal delay and may include hormone replacement.  Involving a pediatric endocrinologist should be considered.  Appropriate counseling and ongoing support are important for all patients and families, regardless of underlying disease process.  
This review contains 4 figures, 4 tables, and 32 references.
Keywords: puberty, delayed puberty, hypogonadism, hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, menarche, thelarche, constitutional delay and growth in puberty, Turner syndrome
Techniques For Assessment Of Body Composition In Health
Authors: M Prado Carla , Oliveira Camila LP , Gonzalez M Cristina , B Heymsfield Steven
Published: January 2021

Body composition assessment is an important tool in both clinical and research settings able to characterize the nutritional status of individuals in various physiologic and pathologic conditions. Health care professionals can use the information acquired by body composition analysis for the prevention and treatment of diseases, ultimately improving health status. Here we describe commonly used techniques to assess body composition in healthy individuals, including dual-energy x-ray absorptiometry, bioelectrical impedance analysis, air displacement plethysmography, and ultrasonography. Understanding the key underlying concept(s) of each assessment method, as well as its advantages and limitations, facilitates selection of the method of choice and the method of the compartment of interest.
This review contains 5 figures, 3 tables and 52 references
Key words: air displacement plethysmography, bioelectrical impedance analysis, body composition, disease, dual-energy x-ray absorptiometry, health, muscle mass, nutritional status, obesity, sarcopenia, ultrasound fat mass
Nutritional Support in Acute Kidney Injury
Authors: Sabatino Alice , Regolisti Giuseppe , Fani Filippo , Fiaccadori Enrico
Published: January 2021

Protein-energy wasting (PEW) is particularly common in patients with acute kidney injury (AKI). It is correlated, at least in part, with specific factors of the reduction of renal function and is associated with significant increase in mortality and morbidity. In this clinical condition, the optimal nutritional support remains an open question due to its qualitative composition in terms of macro- and micronutrients. In fact, data on critically ill patients have confirmed that nutritional support targeting the real protein and energy needs is associated with improvement of clinical outcome. However, data available in AKI patients are still scarce. AKI is characterized by increased risk of both under- and overfeeding because of the coexistence of many factors that can influence the evaluation of nutrient needs, such as a rapid change in body weight due to alterations in fluid balance, loss of nutrients during renal replacement therapy (RRT), and the presence of hidden calories in the RRT (ie, calories derived from anticoagulants and/or from solutions used in the different dialysis methods). As AKI comprises a highly heterogeneous group of patients, with oscillatory nutrient needs during patients’ clinical course, nutritional requirements should be frequently reassessed, individualized, and carefully integrated with RRT. Nutrient needs in patients with AKI can be difficult to estimate and should be directly measured, especially in the intensive care unit setting.

This review contains 4 figures, 3 tables and 104 references
Keywords: Malnutrition In ICU Patients,  Acute Kidney Injury, Nutritional Support, Indirect Calorimetry, Resting Energy Expenditure, Lipid Oxidation Rate, Glucose Oxidation Rate, Micronutrients
Genetics of Hypertension
Authors: Sparks Matthew A. , Phelan Paul J
Published: January 2021

Despite the high prevalence of hypertension and its resulting morbidity and mortality, our knowledge of its pathogenesis remains limited. Strong evidence for a genetic role in blood pressure (BP) variability was first provided by familial segregation studies and the identification of mendelian disorders causing marked hypertension. These monogenic diseases, largely involving genes in sodium homeostatic pathways, have reinforced the Guytonian principle that BP is largely governed by renal sodium excretion. More recently, large population based genome wide association studies (GWAS) have attempted to fill in the missing heritability of the BP trait, with mixed results. Although many variants have been identified that are robustly associated with BP variability, they are mostly rare and together are responsible for a tiny percentage of total trait variability. Observations from GWAS include shared risk variants for cardiovascular and kidney disease, including polymorphisms in UMOD. Mutations in this gene are known to cause monogenic renal disease. GWAS data may be employed for pathway analysis to discover the etiology of hypertension as well providing the potential to interrogate drug responses to antihypertensive agents depending on genotype. The chapter concludes with describing future directions in BP genetics including evidence of the role of epigenetic mechanisms in BP pathogenesis. As we enter the era of whole genome sequencing, the possibility exists to discover the missing hereditability of BP variation although this technology will present its own challenges.

This review contains 6 figures, 2 tables and 94 references
Key words: adrenocorticotropic hormone, autosomal dominant,  autosomal recessive, cytosine-phosphate-guanine, epithelial sodium channel
Musculoskeletal Problems In The Female Athlete
Authors: Asif Irfan M , Harmon Kimberly , Shasteen Mallory
Published: January 2021

Musculoskeletal injuries in the female athlete are, for the most part, similar to those in the male athlete. However, there are differences in the incidence of these injuries and in the sports in which they tend to occur. Female athletes have a higher rate of noncontact anterior cruciate ligament injuries than male athletes. Other musculoskeletal problems are also more common in females, such as multidirectional instability of the shoulder, adhesive capsulitis, and patellofemoral pain. This review addresses injuries that are seen commonly in female athletes and outlines current diagnosis and treatment options.
This review contains 3 figures and 32 references
Key words: ACL tear, adhesive capsulitis, atraumatic, female athlete, injection, knee, patellofemoral pain, shoulder
Bacterial Infections in Pregnancy
Authors: Duff Patrick , Jackson Jessica
Published: January 2021

All pregnant women should be screened on the first prenatal visit for chlamydia infection and gonorrhea. High-risk patients should be rescreened in the third trimester. Patients with symptomatic bacterial vaginosis should be treated with metronidazole to prevent complications such as preterm delivery, chorioamnionitis, and puerperal endometritis. All patients should be screened for GBS infection at 35 to 37 weeks and treated intrapartum with prophylactic antibiotics if they test positive. Prompt diagnosis and treatment of chorioamnionitis are essential to prevent neonatal and maternal complications. The treatment of choice intrapartum is ampicillin plus gentamicin. Patients who require cesarean delivery should also receive either clindamycin or metronidazole postpartum to strengthen coverage against anaerobes. Two highly effective treatment regimens for puerperal endometritis are clindamycin plus gentamicin or metronidazole plus ampicillin plus gentamicin.

This review contains 5 figures, 7 tables and 43 references.
Key Words: bacterial vaginosis, chorioamnionitis, lower genital tract infection, puerperal infection, urinary tract infection
Common Maternal Genetic Syndromes III: Ehlers-Danlos Syndrome
Authors: Vidaeff Alex C.
Published: January 2021

The purpose of this work is to improve the basis upon which advice on pregnancy is given to women with Ehlers-Danlos syndrome (EDS) and to address issues of obstetric management by drawing upon the accumulated world experience. Although, overall, pregnancy in EDS is well tolerated, with good outcomes, the rate of maternal and perinatal complications is higher and every pregnancy in these women remains a high-risk pregnancy. The obstetrical outcomes are influenced by the type of EDS and the specific underlying abnormalities. The older numeric classification of EDS has been largely abandoned and it was replaced by the 2017 descriptive international classification. Based on this new classification, we are briefly describing the most common EDS types and consider the management implications imposed by pregnancy and delivery.
 
This review contains 2 figures, 1 table, and 36 references.
Keywords: Ehlers-Danlos syndrome, EDS types, pregnancy, delivery, EDS classification, counseling, genetic screening, neonatal outcomes
Transplantation Principles
Authors: Siemionow Maria , Zor Fatih
Published: January 2021

Transplantation is a truly multidisciplinary specialty where a surgical procedure requires inputs from both, the specialists of the specific organ e.g. nephrologist for kidney transplant or hepatologist for liver transplant, as well as from experts of other specialties such as immunology, infectious diseases etc. It is also a rapidly grooving field with the advances in surgical techniques, immunological knowledge and pharmacology. A recent, major advance in the field of transplantation is the emergence of new procedure of vascularized composite allotransplantation, which includes transplantation of non-lifesaving organs such as face, hands, abdominal wall or uterus. Additionally, organ shortage in transplantation yielded a new area of research such as xenotransplantation and regenerative medicine. The specialty of transplantation may be difficult to comprehend for those entering the field; thus, the goal of this chapter is to provide a comprehensive overview of the most important aspects of transplantation.
This review contains 2 figures, 3 tables, and 67 references.
Keywords: transplantation, solid organ transplantation (SOT), vascularized composite allotransplantation (VCA), transplant immunology, allorecognition, acute rejection, chronic transplant rejection, principles of transplantation, transplantation terminology, immunosuppressive drugs
Craniosynostosis Part I: Pathophysiology and Patient Evaluation
Authors: Lee Jonathan Y. , Goldstein Jesse A.
Published: January 2021

Craniosynostosis is the premature fusion and obliteration of one or more cranial sutures. As a result, cranial growth can only occur parallel to the involved suture(s) resulting in predictable head shape morphologies. More importantly, the restricted cranial growth can also have a deleterious effect on the growing brain with increased intracranial pressures leading to abnormal neurocognitive development, blindness, and death. Craniosynostosis can either be syndromic or non-syndromic; and therefore, patient evaluation should be performed in a multi-disciplinary team setting for comprehensive care. Physical exam focuses on head shape morphology, associated anomalies, and signs of intracranial pressure. Imaging with 3D CT is gold standard at confirming diagnosis and extent of suture involvement. Early diagnosis is key for planning optimal intervention.
This review contains 14 figures, 4 tables and, 42 references.
Keywords: craniosynostosis, virchow’s law, plagiocephaly, trigonocephaly, scaphocephaly, brachycephaly, Apert Syndrome, Crouzon Syndrome, Pfeiffer Syndrome, intracranial pressure
Adjuncts to Facial Rejuvenation
Authors: Faulkner Heather R.
Published: January 2021

The preferred methods for facial rejuvenation have been changing over the past decade, with operative procedures on the decline and minimally invasive, office-based procedures on the rise. As a result, it is critical for plastic surgery practitioners to understand the intricacies of the use of neuromodulators and soft tissue fillers in this milieu. While these procedures are usually performed in an office, without general anesthesia, the risk of significant complications still exists. The knowledge of facial anatomy, techniques, and pitfalls is essential for achieving high quality, predictable, and reproducible results. Likewise, when a complication arises, prompt recognition and appropriate treatment is paramount. In this chapter, the history, purpose, technical guidelines, and complications of adjunctive techniques for facial rejuvenation are reviewed in detail.
This review contains 2 tables, and 52 references.
Keywords: facial rejuvenation, neuromodulator, soft tissue filler, botulinum toxin, dermal filler, aging face, facial rhytids, filler complications, glabellar lines, nasolabial fold
Management of Pressure Injuries
Authors: Smith J. Michael , Aliano Messina Kristen A. , Boukovalas Stefanos , Norbury William B. , Phillips Linda G.
Published: January 2021

Pressure injuries are a significant clinical challenge that incurs substantial morbidity for patients and cost for healthcare systems. These wounds often develop in the context of prolonged immobility and chronic disease. In this review, the authors outline fundamentals of pressure injury pathophysiology, important considerations in patient assessment, and a basic overview of the medical and surgical management of these complex patients. Additionally, a brief overview of innovative technologies on the horizon in the prevention, detection, and treatment of pressure injuries is presented. This chapter aims to provide baseline knowledge to enable the reader to function as an effective member of the multi-disciplinary team that cares for pressure injury patients. 
This review contains 2 figures, 5 tables, and 31 references.
Keywords: pressure injury, pressure sore, chronic wounds, patient assessment, wound care, wound healing, surgical management, stem cells, prevention, medicine, plastic surgery
Basal and Cutaneous Squamous Cell Carcinoma of the Head and Neck
Authors: Mulvaney Patrick M. , Weiss Jonathan , Do Daihung
Published: January 2021

Basal cell carcinoma (BCC) is the most commonly diagnosed skin cancer in the United States and are most frequently encountered on sun-exposed body sites including the head and neck. They can be difficult to distinguish from other common skin neoplasms making biopsy a necessity for diagnosis prior to treatment. These tumors grow contiguously, are locally destructive but rarely metastasize making them good candidates for local surgical removal or destruction. This chapter reviews BCC epidemiology, pathogenesis, diagnostic approach and management considerations. Advanced tumors and practical considerations for plastic surgeons caring for these patients are also covered in detail. Squamous cell carcinoma (SCC) is the second most common malignancy of the skin. Most cases can be directly attributed to ultraviolet radiation (UVR), usually due to chronic sun exposure. With early detection, squamous cell carcinoma can be successfully treated with limited morbidity and low risk of mortality. Surgical modalities, namely Mohs micrographic surgery or wide local excision, are the gold standard for most invasive SCC. Advanced or particularly aggressive tumors carry a significant risk of local recurrence, nodal metastasis, and mortality. These risks highlight the importance of early detection, and appropriate risk stratification to guide the most appropriate treatment.
This review contains 5 figures, 6 tables, and 63 references.
Keywords: nonmelanoma skin cancers (NMSC), keratinocyte carcinomas (KC), basal cell carcinomas (BCC), squamous cell carcinomas (SCC), ultraviolet radiation (UVR), verrucous carcinoma, electrodesiccation and curettage (ED&C), photodynamic therapy (PDT), sentinel lymph node biopsy (SLNB), Brigham and Womens’s (BWH) tumor staging system
Osteoarthritis of the Interphalangeal and Metacarpophalagneal Joints of the Hand
Authors: Straszewski Andrew J. , Moriatis Wolf Jennifer
Published: January 2021

Hand surgeons frequently treat osteoarthritis of the interphalangeal (IP) and metacarpophalangeal (MCP) joints. Age, female gender, occupation, genetics, biomechanics, obesity, and joint laxity have been implicated in the progression of disease. Physical examination and standard three-view imaging of the hand aid in initial work up. Many conservative treatments exist, including physical therapy, splinting, anti-inflammatories, and injection of corticosteroid or hyaluronic acid.  With the failure of conservative therapies, surgical management is dictated by the particular joint in question. The distal interphalangeal (DIP) joints of fingers and IP joint of the thumb are more commonly treated by arthrodesis, whereas proximal interphalangeal (PIP) joints are treated with arthroplasty. Likewise, MCP  joints of the fingers are typically managed with arthroplasty. The thumb MCP joint is more commonly fused. 
This review contains 7 figures, 4 tables, and 54 references.
Keywords: hand osteoarthritis, interphalangeal joint, metacarpophalangeal joint, anatomy, arthroplasty, silicone, arthrodesis, biomechanics, outcomes
Prosthetic-Based Breast Reconstruction
Authors: Nguyen Jonathan , Williams Justin , Losken Albert
Published: January 2021

Prosthetic reconstruction is the most popular option for breast reconstruction after mastectomy. There are several different techniques, such as prepectoral versus subpectoral placement, and delayed versus immediate reconstruction, each with their own sets of risks and benefits. With the advent of improved implant technology, acellular dermal matrix, and fat grafting, prepectoral direct to implant has become an accepted and increasingly popular method of reconstruction, with similar to improved complication rates and outcomes as traditional staged tissue expander reconstruction. Prosthetic reconstruction has had some recent controversies, including breast implant associated anaplastic large cell lymphoma and breast implant illness, and many future studies are being directed towards these topics.
This review contains 5 figures, and 53 references.
Keywords: breast reconstruction, breast implant, acellular dermal matrix, prepectoral reconstruction, tissue expander, fat grafting, capsular contracture, immediate reconstruction, breast implant associated anaplastic large cell lymphoma, breast implant illness
Surgical Approaches to the Irradiated Breast
Authors: Fracol Megan , Fine Neil
Published: January 2021

The use of radiation therapy for treatment of breast cancer has steadily increased since the 1990s. Plastic surgeons must be prepared to reconstruct patients with prior lumpectomy and radiation now needing salvage mastectomy, as well as the growing number of patients who will go on to need post mastectomy radiation therapy. Operating in the irradiated field presents unique challenges, including but not limited to intra-operative difficulties such as friable vessels when performing autologous-based reconstruction and higher rates of post-operative complications when performing implant-based reconstruction. Reconstructed outcomes are often inferior to the non-irradiated patient and as such the plastic surgeon should be prepared to perform further revision as necessary. This chapter will review indications for radiation therapy, both autologous- and implant-based approaches to reconstructing the irradiated breast and how to manage post-operative complications.
This review contains 3 figures, 5 tables, and 75 references.
Keywords: radiation, breast irradiation, breast reconstruction, radiation therapy, autologous reconstruction, implant-based reconstruction, revisionary breast surgery, complications
Lower Extremity Reconstruction Following Tumor, Burns and Infections
Authors: Orgill Dennis P
Published: January 2021

Advances in plastic surgery have allowed for limb salvage in most cases of severe infection or tumor.  This often involves moving adjacent or distant vascularized soft tissue into the area.  Traditionally, surgeons have used the "Reconstructive Ladder" as a paradigm to consider various options to treat complex wounds.  Common flaps in the lower extremity will be reviewed as well as case examples to illustrate the principles of reconstruction.  New technologies such as dermal scaffolds, Negative Pressure Wound Therapy and Advanced biologics have all changed how we manage these conditions.  Advances in the microanatomy of skin has allowed surgeons to design a wide array of new flaps simplifying the extent of surgical innovation. 
This review contains 6 figures, 2 tables, and 27 references.
Keywords:lower extremity, wound, infection, tumor, osteomyelitis, sarcoma, lower extremity trauma, amputation, limb salvage
Craniofacial Syndromes Part II: Atypical Facial Clefts, Romberg Syndrome, Moebius Syndrome, Fibrous Dysplasia, and Neurofibromatosis
Authors: Saldanha Francesca , Resnick Cory M. , Rogers-Vizena Carolyn R.
Published: January 2021

This final article of the two-part craniofacial series continues to provide the embryologic and developmental foundations necessary to understand congenital craniofacial pathology. Clinical characteristics and molecular genetics needed to make an accurate diagnosis and formulate a treatment plan will be detailed for atypical craniofacial clefts, Moebius Syndrome, Fibrous Dysplasia, Progressive Hemifacial Atrophy (Parry-Romberg syndrome) and Neurofibromatosis. Details of the operations applied in treatment of these disorders are discussed in separate Scientific American: Plastic Surgery (SAPS) articles as referenced.
This review contains 3 tables, and 10 figures, and 42 references.
Keywords: craniofacial, Tessier cleft, atypical facial cleft, Romberg syndrome, Parry-Romberg syndrome, Moebius syndrome, fibrous dysplasia, McCune Albright syndrome, neurofibromatosis
Developmental Biology II: The Role of WNT Signaling in Bone Regeneration
Authors: Borrelli Mimi R. , Ngaage Ledibabari M. , Wan Derrick C. , Longaker Michael T. , Lorenz H. Peter
Published: January 2021

Wingless-related integration site (Wnt) signaling is an important regulator of bone development and regeneration. Wnts are short-range signaling molecules which act within the skeletal stem cell niche to influence cell proliferation and differentiation. Nineteen different Wnts have been identified in humans. Disruptions to Wnt signaling can lead to impairments in bone healing. Recent work has elucidated the complexities of Wnt signaling during bone development, repair, and regeneration, and highlighted its value as a potential therapeutic target for tissue regeneration. Here, we discuss the role of the canonical-Wnt-signaling pathway, its regulatory role in bone regeneration, and the recent clinical advance made towards its manipulation in regenerative medicine.
This review contains 3 figures and 50 references. 
Keywords: osteogenesis, bone regeneration, bone remodeling, endochondral ossification, osteoblast, osteoprogenitor, lithium, fracture healing
Mood Disorders
Authors: Baloch Hasan A , Soares Jair C.
Published: January 2021

Affective disorders are among the most common disorders in psychiatry. They are generally classified according to the persistence and extent of symptoms and by the polarity of these symptoms. The two poles of the affective spectrum are mania and depression. Bipolar disorder is characterized by the presence of the mania or hypomania and often depression. Unipolar depression is defined by depression in the absence of a lifetime history of mania or hypomania. These differences are not merely categorical but have important implications for the prognosis and treatment of these conditions. Bipolar disorder, for example, is better treated using mood-stabilizing medication, whereas unipolar depression responds optimally to antidepressant medications. In addition, prognostically, unipolar depression may sometimes be limited to one episode in a lifetime, whereas bipolar disorder is typically a lifelong condition. The course of both conditions, however, is often chronic, and frequently patients can present with unipolar depression only to later develop manic symptoms. A thorough understanding of both conditions is therefore required to treat patients presenting with affective symptomatology. This chapter discusses the epidemiology, etiology and genetics, pathogenesis, diagnosis, and treatment of unipolar depression and bipolar disorder. Figures illustrate gray matter differences with lithium use and the bipolar spectrum. Tables list the pharmacokinetics of commonly used antidepressants and medications commonly used in the treatment of bipolar disorder.
This review contains 2 figures, 2 tables, and 136 references.
Perfectionism
Authors: Domar Alice D.
Published: January 2021

Perfectionism is common and even encouraged in medicine. Acceptance to medical school is predicated on academic excellence; those who commence being schooled in medicine and their perfectionistic tendencies may be rewarded. Residency and fellowship years are a time where teamwork, appropriate social behavior and flexibility may be as important as academic knowledge.  This can be threatening to the physician who has succeeded through perfectionistic academic self-induced pressure. Committing a mistake, although expected by all in this field, can feel overwhelming and unacceptable to a perfectionist: it can lead to symptoms of stress, depression and even suicide. Solutions to maladaptive perfectionism include cognitive-behavior therapy and coaching.

This review contains 14 references.
Key words: perfectionism, adaptive, maladaptive, physician burnout, suicide, CBT, coaching
Self-Compassion during GME training
Authors: Reimers Rebecca M.
Published: January 2021

Self-compassion is a positive psychology concept that is related to resilience, improved coping, and reduced stress. The three key components are self-kindness, mindfulness, and understanding that we are all part of a common humanity. Self-compassion is in opposition of harsh self-judgment or self-criticism, which have been linked to stress, emotional dysregularion, and avoidance of negative feedback.  Self-compassion can be useful during individual times of crisis and on a daily basis for improved resilience and coping. Exercises for acute events, suggestions for daily living, and a review of self-compassion research in healthcare settings are reviewed and explained in the following article.
This review contains 1 table and 16 references.
Keywords: mindfulness; resilience; self-compassion; well-being; residency; burnout; graduate medical education
Management and Therapeutic Issues in the Dementias
Authors: Knopman David
Published: January 2021

As of 2016, treatment of Alzheimer disease (AD) dementia and the principal non-AD dementias is entirely palliative. Although there are several drugs approved for the treatment of mild to moderate AD dementia, these drugs—the cholinesterase inhibitors and memantine—have rather modest benefits. In general, nonpharmacologic approaches to the management of patients with dementia emphasize support for the caregiver, attention to safety, and providing a supportive and socially enriched environment for the patient. Depression is common in dementias of diverse etiology; lower doses of later-generation antidepressants are effective in controlling depressive symptoms in patients with dementia. Agitation is not a ubiquitous occurrence in patients with dementia, but physically aggressive behavior, hallucinations, and delusions affect a sizable fraction of patients with dementia. There is much controversy regarding the appropriate medication classes to use in cases of agitation, but the antipsychotic agent quetiapine is often effective and unique among its class in not causing parkinsonism or tardive dyskinesia.
Key words: antidepressants, antipsychotic agents, caregiver support, cholinesterase inhibitors
Myopathies
Authors: Cochrane Thomas I. , Amato Anthony A
Published: January 2021

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle.
This chapter contains 3 highly rendered figures, 4 tables, 107 references, and 5 MCQs.
Type 1 Diabetes Mellitus
Authors: Wolfsdorf Joseph I. , Garvey Katharine
Published: January 2021

Type 1 diabetes mellitus is a heterogeneous metabolic disease characterized by destruction of the pancreatic beta cells resulting in an absolute deficiency of insulin secretion with subsequent hyperglycemia. This review details the definition and classification, epidemiology, pathophysiology, pathogenesis, prevention, diagnosis, and management of type 1 diabetes mellitus. Figures show the opposing actions of insulin and glucagon, particularly within the liver, on substrate flow and plasma levels; plasma glucose, insulin and C-peptide levels; the structure of human proinsulin; the cellular actions of insulin; measurement of insulin levels after the administration of glucose; the pathways that lead from insulin deficiency to the major clinical manifestations of type 1 diabetes mellitus; the pathogenesis of type 1 autoimmune diabetes mellitus; the relationship between hemoglobin A1C and calculated average glucose level; basal-bolus and insulin pump regimens; and management of diabetic ketoacidosis. Tables list the etiologic classification of diabetes mellitus, criteria for the diagnosis of diabetes, American Diabetes Association standards for glycemic control in diabetes mellitus, insulin preparations, potential advantages of continuous subcutaneous insulin infusion compared with multiple daily injections, cardiovascular risk factor screening and treatment, and typical admission laboratory findings and monitoring in diabetic ketoacidosis.
This review contains 10 highly rendered figures, 7 tables, and 66 references.
Urinary Tract Infections
Authors: Yawetz Sigal
Published: January 2021

Urinary tract infection (UTI) is the most common bacterial infection, affecting women far more than men. Aerobic gram-negative bacteria are the most common uropathogens causing UTI, with Escherichia coli remaining the most predominant organism in complicated infections. UTI can result in a variety of infections and inflammations, from asymptomatic bacteriuria to typical symptomatic cystitis to acute pyelonephritis, as well as bacterial prostatitis in men.
In general, antimicrobial therapy is warranted for any symptomatic infection of the urinary tract. However, new consensus treatment guidelines for uncomplicated UTI in women, set by the Infectious Diseases Society of America and the European Society for Microbiology of Infection Diseases in 2010, account for the increasing antimicrobial resistance of pathogens and focus on first-line empirical treatment regimens. To reduce the use of antibiotics, treatment and prevention of recurrent UTI may involve several strategies on varying levels of effectiveness; some of the more well-tested options include probiotics, antiseptics, and topical estrogen. Antimicrobial approaches should be reserved for women in whom these options prove to be ineffective.
This review contains 7 highly rendered figures, 7 tables, and 120 references.
Menopause
Authors: Reed Susan D. , Sutton Eliza L.
Published: January 2021

The female reproductive system matures in a continuous, natural process from menarche to menopause as the finite numbers of oocytes produced during fetal development are gradually lost to ovulation and senescence. Menopause is defined as the permanent cessation of menses; by convention, the diagnosis of menopause is not made until the individual has had 12 months of amenorrhea. Menopause is thus characterized by the menstrual changes that reflect oocyte depletion and subsequent changes in ovarian hormone production. However, hormonal changes, rather than the cessation of menstruation itself, cause the manifestations that occur around the time of menopause. Therefore, a woman who has undergone a hysterectomy but who retains her ovaries can experience normal menopausal symptoms as oocyte depletion leads to changes in estrogen levels, even though cessation of menstruation occurred with surgery. This review covers definitions, natural menopause, menopausal transition and postmenopausal symptom management, and premature ovarian insufficiency. Figures show stages of reproductive aging, serum concentrations of hormones during menopausal transition and postmenopause, hormonal changes associated with reproductive aging, symptoms of menopausal transition and menopause, treatment algorithm(s), and Women’s Health Initiative findings: risks and benefits of estrogen alone and estrogen plus progestin by age group: 50 to 59, 60 to 69, and 70 to 79 years. Tables list target tissues, physical manifestations, and menopausal symptoms; selective estrogen receptor modulators used in postmenopausal women; differential diagnosis and evaluation of common menopausal symptoms; estrogen doses; progestogen dosing for endometrial protection; nonhormonal pharmaceutical hot flash therapies; and pharmacologic therapy for genitourinary atrophy.
This review contains 6 highly rendered figures, 7 tables, and 119 references.
Approach to the Cardiovascular Patient
Authors: Otto Catherine M. , Shavelle David M
Published: January 2021

The complete evaluation of the cardiovascular patient begins with a thorough history and a detailed physical examination. These two initial steps will often lead to the correct diagnosis and assist in excluding life-threatening conditions. The history and physical examination findings should be assessed in the overall clinical status of the patient, including the patient's specific complaints, lifestyle, comorbidities, and treatment expectations. This chapter discusses the cardiovascular conditions that frequently require evaluation: chest pain, dyspnea, palpitations, syncope, claudication, and cardiac murmurs; and reviews the background, history and physical examination, and diagnostic tests available for each. Diagnostic algorithms are provided, and the appropriate use of invasive and noninvasive cardiac testing for each condition is discussed.
This review contains 8 highly rendered figures, 12 tables, and 52 references.
Medical Evaluation of the Surgical Patient
Authors: Gerhard-Herman Marie , Gates Jonathan
Published: January 2021

Medical evaluation prior to surgery includes risk assessment and the institution of therapies to decrease perioperative morbidity and mortality to improve patient outcomes. The most effective medical consultation for surgical patients begins with an assessment of the individual patient and knowledge of the planned surgery and anesthesia followed by clear communication of a concise and specific recommended plan of perioperative care to the surgical team. This chapter describes anesthetic, cardiac, pulmonary, hepatic, nutritional, and endocrine risk assessment. Perioperative thrombotic management and postoperative care and complications, including fluid management; pulmonary, cardiac, renal complications; and delirium are discussed. Tables outline the American Society of Anesthesiologists class and perioperative mortality risk, a comparison of the Revised Cardiac Risk Index and National Surgery Quality Improvement Program, Duke Activity Status Index, high-risk stress test findings, markers for increased perioperative risk in pulmonary hypertension, aortic stenosis and nonemergent noncardiac surgery, risk factors for pulmonary complications in noncardiac surgery, the Model for End-Stage Liver Disease score to predict postoperative mortality, venous thromboembolism risk factors and options for pharmacologic prophylactic regimens, perioperative management of warfarin, and Brigham and Women’s Hospital guidelines for postoperative blood product replacement. Figures include a care algorithm for noncardiac surgery, an illustration of types of myocardial infarction, and an algorithm for the treatment of postoperative delirium.
This review contains 3 highly rendered figures, 12 tables, and 68 references.
Nephrolithiasis in Pregnancy
Authors: Raffin Eric P , Pais Jr Vernon M
Published: January 2021

Nephrolithiasis is a common condition that practicing urologists will encounter and manage. The pregnant patient presents unique challenges when it comes to the diagnosis and treatment of stones. Altered anatomy and physiology, considerations of the fetus, and various imaging and procedural contraindications make navigating the care of pregnant patients with nephrolithiasis more complex than that of the general population. This review presents an algorithmic approach to the diagnosis and management of nephrolithiasis in the pregnant patient. Certain areas that are highlighted include diagnostic imaging modalities and the pros and cons of each with regard to the pregnant patient. Also discussed in detail are various treatment options, including medical management and available surgical interventions. As renal colic is the most common reason for nonobstetric hospitalization in pregnant women, it is important that they are managed with a multidisciplinary approach.
This review contains 2 highly rendered figures, 4 tables, and 26 references
Key words: low-dose CT, medical expulsive therapy, nephrolithiasis, obstructive hydronephrosis, percutaneous nephrostomy, physiologic hydronephrosis, pregnancy, renal colic, resistive index, ureteral stent, ureteroscopy
Pulmonary Hypertension, Cor Pulmonale, and other Pulmonary Vascular Conditions
Authors: Moll Matthew , Sardana Mayank , Farber Harrison W.
Published: January 2021

This review covers the diseases that affect the pulmonary vasculature directly. These conditions include pulmonary hypertension; pulmonary arterial hypertension; chronic thromboembolic pulmonary hypertension; pulmonary hypertension attributed to left heart disease, lung disease and/or hypoxemia, and other disorders; cor pulmonale; pulmonary atriovenous malformations; and pulmonary aneurysms. Figures show changes in the pulmonary vasculature in pulmonary hypertension, pathways involved in the development of pulmonary hypertension, general guidelines for the evaluation of suspected pulmonary hypertension, enlarged proximal pulmonary arteries with pruning of distal pulmonary vasculature (typical of advanced pulmonary arterial hypertension), the remodeling of the heart and continuous-wave Doppler study results observed with chronic pulmonary hypertension, ventilation and perfusion scans of  the lungs with results typical of chronic thromboembolic pulmonary hypertension, and a general approach to the treatment of patients with pulmonary arterial hypertension. Tables list the revised nomenclature and classification of pulmonary hypertension, the World Health Organization classification of functional capacity in patients with pulmonary hypertension, advanced vascular medications for pulmonary artery hypertension, and perioperative management of pulmonary arterial hypertension.
This review contains 8 highly rendered figures, 4 tables, and 118 references.
Overview of Substance Use Disorders
Authors: Thompson Alexander W , Ando Timothy , Morse Emily
Published: January 2021

Substance use disorders are a major source of morbidity and mortality, contributing to a significant proportion of deaths in the United States and worldwide each year. A substantial rise in deaths related to drug overdoses in recent decades has drawn increasing public attention to this issue. However, the majority of individuals struggling with substance use disorders remain untreated. The financial costs and health burden are substantial. This review provides a broad overview of substance-related and addictive disorders. The evolution of the classification system is described, and the diagnostic criteria for the various substance use disorders are reviewed. Epidemiology and etiologic considerations, including neurobiological pathways, genetics, environmental influences, and dimensional risk factors, are examined. Finally, individual substances and their related disorders are reviewed, including alcohol, caffeine, cannabis, hallucinogens, inhalants, opioids, sedative/hypnotics, stimulants, tobacco, and other or unknown substances. Intoxication and withdrawal syndromes are described where applicable, and clinical management concepts are discussed. 
This review contains 6 figures, 5 tables, and 71 references.
Key words: abuse, addiction, alcohol, caffeine, cannabis, dependence, diagnosis, DSM-5, epidemiology, hallucinogen, hypnotic, inhalant, intoxication, methamphetamine, nicotine, opioid, sedative, stimulant, substance use disorders, tobacco, tolerance, withdrawal
Evaluating the Patient with Liver Disease
Authors: Muir Andrew J
Published: January 2021

Until the advanced stages of cirrhosis, the identification of liver disease can be challenging for clinicians. In the earlier stages of the condition, most forms of chronic liver disease are asymptomatic or associated with vague and rather nonspecific complaints, such as fatigue. Even in the setting of cirrhosis, liver enzymes may be normal or mildly elevated. Patients with liver disease are currently recognized through a variety of routes, including screening programs, routine laboratory testing, and imaging performed for other complaints.

This review contains 5 figures, 10 tables and 64 references
Key Words: Primary biliary cirrhosis, Variceal hemorrhage, hepatocellular carcinoma, Hepatitis A, B and C, Discriminant function, Liver biopsy, Alcoholic liver disease, Autoimmune hepatitis, Hemochromatosis, Nonalcoholic fatty liver disease, Wilson disease
Preparing for the Ethical Practice of Precision Medicine
Authors: Allyse Megan A , Sharp Richard R
Published: January 2021

The role of genetics in medicine is changing quickly. New discoveries are rapidly bridging the chasm from bench to bedside, and in addition to medical advances, thousands of people are exploring their genetic traits and ancestry through direct-to-consumer companies. Staying abreast of these changes and their potential implications for patient care can be difficult. To help, we suggest several high-level points of reference regarding the current state of genomic medicine, with a focus on the ethical and social issues raised by these technologies. This review covers the rise of genomic medicine, information overload, direct access to genetic information, genetic discrimination, and informed consent. Tables list the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings in clinical exome and genome sequencing, an excerpt from the Genetic Information Nondiscrimination Act, and genetics education resources for physicians.
This review contains 3 tables, and 44 references.
Key words: Genomic medicine, genetic medicine, medical genetics, genetic testing, direct-to-consumer genetics, genetic discrimination
Assessment of the Geriatric Patient
Authors: Martinchek Michelle
Published: January 2021

Geriatric syndromes are complex conditions that are common in older adults and often have multiple contributing factors. These syndromes do not fit into discrete disease or organ system categories like other conditions. As the population of older adults continues to grow, it is important that providers are equipped to assess older adults for these geriatric syndromes. These syndromes are associated with functional disability and other poor outcomes. Examples of these syndromes include cognitive impairment, delirium, falls, frailty, weight loss, and pressure ulcers. Understanding the epidemiology, pathogenesis, and predisposing factors may help providers identify patients at risk for these syndromes. Furthermore, a thorough assessment is key in the evaluation of these syndromes.
This review contains 48 references, 4 figures, and 8 tables.
Key Words: cognition, dementia, delirium, fall, frailty, gait, geriatric, malnutrition, pressure ulcer, weight loss
Depressive Disorders: Update on Diagnosis, Etiology, and Treatment
Authors: Bauer Isabelle E. , Teixeira Antonio L , Sanches Marsal , Soares Jair C.
Published: January 2021

This review discusses the changes in the diagnostic criteria for depressive disorders as outlined in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5), and recent findings exploring the etiology of and treatment strategies for these disorders. Depressive disorders are typically characterized by depression in the absence of a lifetime history of mania or hypomania. New developments in the DSM-5 include the recognition of new types of depressive disorders, such as disruptive mood dysregulation disorder, persistent depressive disorder, premenstrual dysphoric disorder, and the addition of catatonic features as a specifier for persistent depressive disorder. These diagnostic changes have important implications for the prognosis and treatment of this condition. A thorough understanding of both the clinical phenotype and the biosignature of these conditions is essential to provide individualized, long-term, effective treatments to affected individuals. 
This review contains 1 table and 52 references
Key words: brain volumes, depressive disorders, DSM-5, hormones, inflammation, neuropeptides, somatic therapy, stress
Vaginitis
Authors: Mendiola Monica , Blake Rachel A
Published: January 2021

Vulvovaginal complaints are a common indication for women to seek gynecologic care. The most common causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis, which account for 22 to 50%, 17 to 39%, and 4 to 35% of vaginitis, respectively. This review describes the presentation, diagnosis, and prevention strategies for the most important causes of vulvovaginitis, including characteristic findings on office microscopy and newer available diagnostic testing. It outlines treatment modalities for uncomplicated infections in healthy women, as well as nuances of treatment for recurrent and persistent infections, pregnant women, and HIV-positive women. It also explores the diagnosis and management of non-infectious vaginitis as well special consideration for vaginitis in children and adolescents.
This review contains 4 figures, 8 tables, and 55 references.
Key words: vaginitis, vulvovaginitis, bacterial vaginosis, candidiasis, trichomoniasis, vaginitis treatment