OpenMed/multicare-articles huggingface dataset:
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
Authors: S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki
Journal: Clin Genet (2012)
MeSH terms: Ankylosis / genetics, Carrier Proteins / genetics, Genetic Predisposition to Disease / genetics, Hyperopia / genetics, Joint Diseases / congenital, Phenotype, Syndactyly / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Ankylosis / pathology, Asian People / genetics, Carpal Bones / abnormalities, DNA Primers / genetics, Female, Finger Joint / abnormalities, Finger Joint / pathology, Foot Deformities, Congenital, Hand Deformities, Congenital, Hearing Loss, Conductive / genetics, Hearing Loss, Conductive / pathology, Humans, Hyperopia / pathology, Joint Diseases / genetics, Joint Diseases / pathology, Male, Middle Aged, Mutation / genetics, Otosclerosis / genetics, Pedigree, Polymerase Chain Reaction, Sequence Analysis, DNA, Stapes / abnormalities, Stapes / pathology, Syndactyly / pathology, Synostosis, Tarsal Bones / abnormalities, Thumb / abnormalities, Thumb / pathology, Toes / abnormalities, Toes / pathology, Carrier Proteins, DNA Primers, noggin protein, Cushing's symphalangism, NOG-Related-Symphalangism Spectrum Disorder

Human noggin (NOG) is a responsible gene for multiple synostosis syndrome (SYNS1) and proximal symphalangism (SYM1), two conditions that are recently known to be within a wider range of clinical manifestations of stapes ankylosis with symphalangism. This study was performed to determine the range of phenotype caused by NOG mutations, using Japanese patients with various phenotypes including sporadic inherited SYM1, dominantly inherited SYM1, stapes ankylosis with broad thumb and toes (Teunissen and Cremer syndrome). In addition, 33 patients with typical otosclerosis (without symphalangism) were studied. Direct sequencing analysis disclosed three novel mutations of the NOG gene in three SYM1 families. None of the otosclerosis patients without symphalangism had NOG mutations, indicating that NOG mutations may be restrictively found within patients with various skeletal abnormalities. These results together with the literature review indicated that there are no clear genotype-phenotype correlations for NOG mutations. With regard to surgical outcome, most of the patients in these three families with NOG mutations showed remarkable air-bone gap recovery after stapes surgery. Molecular genetic testing is useful to differentiate syndromic stapes ankylosis from otosclerosis, and even mild skeletal anomalies can be a diagnostic indicator of NOG-associated disease.
Thiamine Deficiency Leading to Refractory Lactic Acidosis in a Pediatric Patient
Authors: Alicia M Teagarden, Brian D Leland, Courtney M Rowan, Riad Lutfi
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Thiamine plays a critical role in energy metabolism. Critically ill children and adults may develop thiamine deficiency with ultimately increased mortality due to potentially irreversible consequences of severe type B lactic acidosis. We report a case of an unvaccinated term neonate with malignant pertussis requiring extracorporeal membrane oxygenation and continuous renal replacement therapy, who developed profound lactic acidosis of unknown etiology. After countless evaluations for likely causes, the patient was ultimately determined to have thiamine deficiency and her acidosis resolved rapidly with vitamin supplementation.
Histoplasmosis presenting as granulomatous hepatitis: case report and review of the literature
Authors: Nancy A Rihana, Manasa Kandula, Ana Velez, Kumud Dahal, Edward B O'Neill
Journal: Case Rep Med (2014)

Background. Histoplasma capsulatum is the most common endemic mycosis in the United States and is a frequent cause of opportunistic infection in immunodeficient hosts. Histoplasmosis is most often self-limiting and goes unrecognized in the immunocompetent population but can progress to disseminated histoplasmosis in patients with an impaired immune system. Liver involvement as a part of disseminated histoplasmosis which usually originates in the lung is well known. However, extrapulmonary hepatic histoplasmosis as a primary manifestation is extremely rare. Case Presentation. We report a rare case of histoplasmosis that presented as persistent fever and abnormal liver function tests in a 66-year-old female with rheumatoid arthritis, receiving infliximab. Conclusion. Emphasizing histoplasmosis as a major cause of acute granulomatous hepatitis and fever of unknown origin in cell mediated immunodeficient population, this case highlights the need for high index of suspicion and the importance of prompt diagnosis since any delay of treatment can be life threatening in this population.
Otoendoscope combined with ablation electrodes for treatment of benign tracheal stenosis caused by granulation tissue hyperplasia after tracheotomy
Authors: Laina Ndapewa Angula, Yongliang Teng, Le Sun, Xin Wang, Jing Shang, Ning Fang
Journal: Pan Afr Med J (2020)
Keywords: otoendoscopy, granulation tissue, tracheal stenosis, tracheotomy
MeSH terms: Catheter Ablation / methods, Endoscopy / methods, Granulation Tissue / surgery, Postoperative Complications / surgery, Tracheal Stenosis / surgery, Case Reports, Catheter Ablation / instrumentation, Electrodes, Endoscopy / instrumentation, Granulation Tissue / pathology, Humans, Hyperplasia / pathology, Hyperplasia / surgery, Intubation, Intratracheal / instrumentation, Intubation, Intratracheal / methods, Male, Middle Aged, Reoperation / methods, Trachea / pathology, Trachea / surgery, Tracheal Stenosis / etiology, Tracheostomy / instrumentation, Tracheostomy / methods, Tracheotomy / adverse effects

Benign tracheal stenosis mainly appears due to tracheotomy, tuberculosis, trauma, benign tumor, or ventilation. With the increase in the number of tracheotomies and the prolongation of the life span of patients after incision, the long-term complications after tracheotomy gradually increase, among which intratracheal granulation hyperplasia is a more serious complication. The present case describes a 59-year-old male with granulation tissue hyperplasia induced by tracheotomy. He underwent tracheal resection to remove the granulation tissue and he remained well after the follow-up. Even though the endoscopic intervention and tracheal resection are readily accessible, they usually quite challenging. Here we summarize the present details on this condition.
Reactive Arthritis Secondary to Cauda Equina Injury following Spine Fracture: A Case Report
Authors: Xiao Li, Shaoling Wu, Chao Ma
Journal: Case Rep Orthop (2011)
MeSH terms: Case Reports

A 38-year-old man presented with a one-month history of muscle weakness and dysesthesia in the lower extremities, urinary retention, and urinary tract infection after lumbar burst fracture resulted from high fall. During the rehabilitation in our hospital, he had arthritis in both the ankle and knee. However, the patient was treated as gouty arthropathy initially. The arthritis was completely remitted in a few days after the patient was diagnosed as reactive arthritis and started with sulfasalazine therapy and there was no recurrence during 4 months of follow-up. Based on this case, early recognition of reactive arthritis is of major importance to avoid delayed initiation of appropriate treatment in the patients with polyarthritis secondary to neurogenic bladder following cauda equina injury after spine fracture.
Idiopathic gingival fibromatosis rehabilitation: a case report with two-year followup
Authors: Mahesh Jayachandran, Shalini Kapoor, Rethi Mahesh
Journal: Case Rep Dent (2013)

Gingival enlargements are quite common and may be either inflammatory, noninflammatory, or a combination of both. Gingival hyperplasia is a bizarre condition causing esthetic, functional, psychological, and masticatory disturbances of the oral cavity. Causes of gingival enlargement can be due to plaque accumulation, due to poor oral hygiene, inadequate nutrition, or systemic hormonal stimulation (Bakaeen and Scully, 1998). It can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. A progressive fibrous enlargement of the gingiva is a facet of idiopathic fibrous hyperplasia of the gingiva (Carranza and Hogan, 2002; Gorlin et al., 1976). It is described variously as fibromatosis gingivae, gingivostomatitis, hereditary gingival fibromatosis, idiopathic fibromatosis, familial elephantiasis, and diffuse fibroma. We present a case of idiopathic gingival fibromatosis with its multidisciplinary approach of management.
Acute Mastoiditis Complicated with Concomitant Bezold's Abscess and Lateral Sinus Thrombosis
Authors: Aziz Mustafa, Burhan Toçi, Hajdin Thaçi, Bujar Gjikolli, Nehat Baftiu
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Bezold's abscess is a very rare extracranial complication of acute mastoiditis. Lateral sinus thrombosis is another intracranial complication of acute mastoiditis that can occur, but there are only few reports of concomitant ispilateral Bezold's abscess and lateral sinus thrombosis with favorable outcome. We diagnosed and treated successfully a 14-year-old girl suffering from Streptococcus pneumoniae acute mastoiditis complicated with Bezold's abscess and lateral sinus thrombosis. Surgical treatment included myringotomy, cortical mastoidectomy, and Bezold's abscess incision and drainage. During the course of treatment, we concluded that lateral sinus thrombosis was not caused from mastoiditis by direct spread but from pressure on internal jugular vein caused from Bezold's abscess.
Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction
Authors: Barrett J Burger, Shannon Rose, Sirish C Bennuri, Pritmohinder S Gill, Marie L Tippett, Leanna Delhey, Stepan Melnyk, Richard E Frye
Journal: Front Pediatr (2017)
Keywords: dep domain-containing protein 5, rett syndrome, wdr45, autism spectrum disorder, neurodegeneration with brain iron accumulation, whole exome sequencing

The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern. Interestingly, WES identified that the brother harbored a novel heterozygous Y1546H variant in the DEP domain-containing protein 5 (DEPDC5) gene, consistent with his presentation. Both siblings underwent a metabolic workup that demonstrated different patterns of mitochondrial dysfunction. The girl demonstrated statistically significant elevations in mitochondrial activity of complex I + III in both muscle and fibroblasts and increased respiration in peripheral blood mononuclear cells (PBMCs) on Seahorse Extracellular Flux analysis. The boy demonstrates a statistically significant decrease in complex IV activity in buccal epithelium and decreased respiration in PBMCs. These cases highlight the differences in genetic abnormalities even in siblings with ASD phenotypes as well as highlights the individual role of novel mutations in the WDR45 and DEPDC5 genes. These cases demonstrate the importance of advanced genetic testing combined with metabolic evaluations in the workup of children with ASD.
Prostitution use has non sexual functions - case report of a depressed psychiatric out-patient
Authors: Fátima Gysin, François Gysin
Journal: F1000Res (2013)

Case:
A shy, depressed 30 year old male discussed his frequent ego-syntonic indoor prostitution consumption in small peer groups. Several distinctive non-sexual functions of this paid sex habit were identified.
Design and method:
The patient had 40 hourly psychiatric sessions in the private practice setting over 14 months. The Arizona Sexual Experience Scale was applied to compare the subjective appraisal of both paid sex and sex in a relationship. The informal Social Atom elucidates social preferences and the Operationalized Psychodynamic Diagnostic-procedure was applied to describe a dominant relationship pattern.
Results:
The paid sex consumption functioned as a proud male life style choice to reinforce the patients fragile identity. The effect on self esteem was a release similar to his favorite past-time of kick-boxing. With paid sex asserted as a group ritual, it was practiced even with frequent erectile dysfunction and when sex with a stable romantic partner was more enjoyable and satisfying. The therapeutic attitude of the female psychiatrist, with her own ethical values, is put in to context with two opposing theories about prostitution: the 'Sex-Work-model' and the 'Oppression-model'. The therapist's reaction to the patients' information was seen as a starting point to understanding the intrapsychic function of paid sex as a coping mechanism against depressive feelings.
Conclusions:
Exploring and understanding prostitution consumption patterns in young men can benefit the treatment of psychiatric disorders in the private practice setting. It is the psychiatrists task to investigate the patients hidden motives behind paid sex use to help patients achieve a greater inner and relational freedom.
Oromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly
Authors: Manasa Anand Meundi, Gopakumar R Nair, Prathima Sreenivasan, A C Raj
Journal: Case Rep Dent (2013)

Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause of the syndrome is unknown. Some type of intrauterine trauma is the most widely accepted etiology. The characteristic features of the syndrome are hypoglossia, limb anomalies of variable degree, and micrognathia of the mandible. This unique case report of hypoglossia-hypodactyly was observed in a patient with normal mandible. In addition, patient also had pulmonary regurgitation. His parents and other siblings were normal. Positive prenatal history of maternal hyperthermia was obtained suspecting it to be the cause of the syndrome.
MRgFUS for desmoid tumors within the thigh: early clinical experiences
Authors: Matthew D Bucknor, Viola Rieke
Journal: J Ther Ultrasound (2017)
Keywords: ablation, case report, desmoid tumor, mrgfus

Background:
Desmoid tumors are benign but locally aggressive non-malignant tumors derived from fibroblasts. Surgery, chemotherapy, and radiation therapy have been the mainstay of treatment, but recurrence is common and side effects can result in significant morbidity. In this case series, we highlight our experiences performing treatments in the thigh, including strategies for optimizing ablation size and safety.
Case presentation:
Since December 2014, 14 magnetic resonance-guided focused ultrasound (MRgFUS) treatments for desmoid tumors were performed at our institution in seven patients. Nine of these treatments were completed in three patients with large tumors within the posterior thigh. The first was a 7-year-old boy who had previously been treated with surgical resection, intra-operative radiation, along with courses of vinblastine/methotrexate and sorafenib. Pretreatment tumor volume was 770 cm3 with 75% non-enhancing volume following the initial treatment. The first treatment was complicated by a third-degree far-field skin burn. Enhanced safety measures were developed to protect the far-field skin. The patient had four subsequent treatments over 14 months, without complication, with non-perfused volume of 85% on current imaging. The second patient was a 21-year-old woman who had previously taken sulindac and celecoxib but had no other therapy. Pretreatment tumor volume was 740 cm3. The lateral decubitus position was used to minimize the amount of energy through the sciatic nerve. The first treatment resulted in a relatively low non-perfused volume of 30%. A follow-up treatment resulted in 75-80% ablation of the target. The third patient was a 14-year-old girl with no prior treatment. Pretreatment tumor volume was approximately 440 cm3. The sciatic nerve was encased by the anteromedial portion of the mass. A lateral decubitus position and enhanced safety measures were again used. The first treatment resulted in a relatively low non-perfused volume of 30%, likely related to low energies. The second treatment resulted in 70-80% ablation.
Conclusions:
MRgFUS is an effective treatment for desmoid tumors of the thigh with a favorable side effect profile, allowing for repeated treatments if necessary. Ablation size and safety can be improved with far-field coupling devices, careful patient positioning, and optimized sonication planning.
Development of synthetic biotics as treatment for human diseases
Authors: Aoife M Brennan
Journal: Synth Biol (Oxf) (2022)
Keywords: synthetic biology, synthetic biotic medicines, therapeutics
MeSH terms: Review

Advances in synthetic biology have allowed the generation of strains of bacteria that are genetically altered to have specific therapeutic benefits. These synthetic biotics, also widely referred to as engineered living therapeutics, have tremendous potential as a new therapeutic modality, and several have advanced into the clinic and human testing. This review outlines some of the unique attributes of synthetic biotics as well as some of the challenges in their development as prescription products. Regulatory considerations are discussed, and a case study of a program that has advanced into Phase 2 testing is provided: SYNB1618 for the treatment of PKU.
A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures
Authors: Suhaib Radi, Andrew C Karaplis
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty. Here, we discuss the management of congenital hypogonadotropic hypogonadism with hyposmia (Kallmann syndrome), with which the patient was ultimately diagnosed, the role of androgens in the acquisition of bone mass during puberty and its maintenance thereafter, and outline specific management strategies for patients with hypogonadism and high risk for fragility fractures.
Case report: Quadruple primary malignant neoplasms including esophageal, ureteral, and lung in an elderly male
Authors: Long Wan, Feng-Yan Yin, Hai-Hua Tan, Li Meng, Jian-Hua Hu, Bao-Rong Xiao, Zhao-Feng Zhu, Ning Liu, Huan-Peng Qi
Journal: Open Life Sci (2022)
Keywords: esophageal squamous cell carcinoma, lung squamous cell carcinoma, multiple primary malignant neoplasm, overall survival, small cell lung cancer, urinary tract urothelial carcinoma
MeSH terms: Case Reports

Multiple primary malignant neoplasms (MPMNs) are defined as multiple tumors with different pathogenic origins. MPMNs are rare, but the morbidity rate is on the rise. With the development of anti-tumor treatments, such as targeted therapy and immunotherapy, the overall survival of cancer patients has been significantly prolonged, leading to an increased number of patients with MPMNs. A crucial aspect of MPMNs management is deciding how to schedule further treatments according to individual tumor risk. This process involves a multidisciplinary physician team to ensure favorable outcomes. Herein we report a 60-year-old male who developed four different malignancies, including esophageal squamous cell carcinoma, upper urinary tract urothelial carcinoma, mediastinal small cell lung cancer, and left lung squamous cell carcinoma over 20 years and received appropriate treatment of each cancer with long survival.
Case Report: Chronic Bacterial Prostatitis Treated With Phage Therapy After Multiple Failed Antibiotic Treatments
Authors: Apurva Virmani Johri, Pranav Johri, Naomi Hoyle, Levan Pipia, Lia Nadareishvili, Dea Nizharadze
Journal: Front Pharmacol (2021)
Keywords: antibiotic resistance, bacteriophages, biofilm, case report, chronic bacterial prostatitis, phage therapy
MeSH terms: Case Reports

Background: Chronic Bacterial Prostatitis (CBP) is an inflammatory condition caused by a persistent bacterial infection of the prostate gland and its surrounding areas in the male pelvic region. It is most common in men under 50 years of age. It is a long-lasting and debilitating condition that severely deteriorates the patient's quality of life. Anatomical limitations and antimicrobial resistance limit the effectiveness of antibiotic treatment of CBP. Bacteriophage therapy is proposed as a promising alternative treatment of CBP and related infections. Bacteriophage therapy is the use of lytic bacterial viruses to treat bacterial infections. Many cases of CBP are complicated by infections caused by both nosocomial and community acquired multidrug resistant bacteria. Frequently encountered strains include Vancomycin resistant Enterococci, Extended Spectrum Beta Lactam resistant Escherichia coli, other gram-positive organisms such as Staphylococcus and Streptococcus, Enterobacteriaceae such as Klebsiella and Proteus, and Pseudomonas aeruginosa, among others. Case Presentation: We present a patient with the typical manifestations of CBP. The patient underwent multiple courses of antibiotic treatment without any long-term resolution of his symptoms. Testing of prostatic secretion and semen samples revealed pathogenic bacteria in each case, which collectively included members of the Staphylococcal species such as Methicillin resistant Staphylococcus aureus (MRSA) and Staphylococcus haemolyticus, Enterococcus faecalis, and Streptococcus mitis, among others. Methods and Outcome: Bacteriophage preparations from the Eliava Institute were used to treat the patient after establishing phage sensitivity to the pathogenic bacteria. Significant improvements in symptoms and re-testing of samples after bacteriophage treatment indicated a reduction in the bacterial load and resolution of the infection. Discussion: The patient saw significant improvement of symptoms, and positive dynamics in bacterial titers and ultrasound controls after phage therapy. The failure of antibiotic therapy and subsequent success of bacteriophage therapy in treating chronic bacterial prostatitis shows the effectiveness of bacteriophages in controlling chronic infections in areas of low vascularity and anatomical complexity. These cases also highlight the efficacy of phages in overcoming antibiotic-resistant infections as well as biofilm infections.