OpenMed/multicare-articles huggingface dataset:
Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2
Authors: Thiago Corrêa, Fabiano Poswar, Bruno César Feltes, Mariluce Riegel
Journal: Front Genet (2020)
Keywords: 4p163, cct5, ctbp1, cri-du-chat, ppargc1a, tert, trio
MeSH terms: Case Reports

In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplication encompassing the band region 4p16.3-p13, and a 14.7 Mb deletion located between the bands 5p15.33 and p15.1. The patient's clinical findings overlap with previously reported cases of chromosome 4p duplication syndrome and CdCS. The patient's symptoms are notably similar to those of CdCS patients as she presented with a weak, high-pitched voice and showed a similar pathogenicity observed in the brain MRI. These contiguous gene syndromes present with distinct clinical manifestations. However, the phenotypic and cytogenetic variability in affected individuals, such as the low frequency and the large genomic regions that can be altered, make it challenging to identify candidate genes that contribute to the pathogenesis of these syndromes. Therefore, systems biology and CMA techniques were used to investigate the extent of chromosome rearrangement on critical regions in our patient's phenotype. We identified the candidate genes PPARGC1A, CTBP1, TRIO, TERT, and CCT5 that are associated with the neuropsychomotor delay, microcephaly, and neurological alterations found in our patient. Through investigating pathways that associate with essential nodes in the protein interaction network, we discovered proteins involved in cellular differentiation and proliferation, as well as proteins involved in the formation and disposition of the cytoskeleton. The combination of our cytogenomic and bioinformatic analysis provided these possible explanations for the unique clinical phenotype, which has not yet been described in scientific literature.
Vasopressin Bolus Protocol Compared to Desmopressin (DDAVP) for Managing Acute, Postoperative Central Diabetes Insipidus and Hypovolemic Shock
Authors: Anukrati Shukla, Syeda Alqadri, Ashley Ausmus, Robert Bell, Premkumar Nattanmai, Christopher R Newey
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

Introduction. Management of postoperative central diabetes insipidus (DI) can be challenging from changes in volume status and serum sodium levels. We report a case successfully using a dilute vasopressin bolus protocol in managing hypovolemic shock in acute, postoperative, central DI. Case Report. Patient presented after bifrontal decompressive craniotomy for severe traumatic brain injury. He developed increased urine output resulting in hypovolemia and hypernatremia. He was resuscitated with intravenous fluids including a dilute vasopressin bolus protocol. This protocol consisted of 1 unit of vasopressin in 1 liter of 0.45% normal saline. This protocol was given in boluses based on the formula: urine output minus one hundred. Initial serum sodium was 148 mmol/L, and one-hour urine output was 1 liter. After 48 hours, he transitioned to 1-desamino-8-D-arginine vasopressin (DDAVP). Pre-DDAVP serum sodium was 149 mmol/L and one-hour urine output 320 cc. Comparing the bolus protocol to the DDAVP protocol, the average sodium was 143.8 ± 3.2 and 149.6 ± 3.2 mmol/L (p = 0.0001), average urine output was 433.2 ± 354.4 and 422.3 ± 276.0 cc/hr (p = 0.90), and average specific gravity was 1.019 ± 0.009 and 1.016 ± 0.01 (p = 0.42), respectively. Conclusion. A protocol using dilute vasopressin bolus can be an alternative for managing acute, central DI postoperatively, particularly in setting of hypovolemic shock resulting in a consistent control of serum sodium.
Diagnosis Dilemma of Angioimmunoblastic T-Cell Lymphoma in Tuberculosis Endemic Region
Authors: S A Touré, M Seck, A B Diallo, E H D Niang, M Keita, M F Dabo, B F Faye, S Diop
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Angioimmunoblastic T-cell lymphoma (AITL) is a rare hematologic malignancy recognized in the WHO 2016 classification as a clinical and histological entity. It is a very poorly described disease in Africa due to its rarity and diagnostic difficulties, particularly differential diagnosis with tuberculosis. Here, we report a 57-year-old man who presented with fever, weight loss, and lymphadenopathies. The diagnosis of tuberculosis was carried out based on lymph node fine needle aspiration showing the image of tuberculous adenitis and CT images in favor of necrotic lymphadenopathies. The presence of autoantibodies and the failure of tuberculosis treatment led us to perform a biopsy with immunostaining that confirmed pathological features of AITL. The patient was treated by CHOP-based chemotherapy, and complete remission was achieved. This case highlights the difficulty of recognizing AITL and the importance of considering other potential differential diagnoses of tuberculosis in the endemic region.
Ease of using a dedicated percutaneous closure device after inadvertent cannulation of the subclavian artery: case report
Authors: Arnaud Devriendt, Emmanuel Tran-Ngoc, Philippe Gottignies, José Castro-Rodriguez, Oliver Lomas, Sophie Jamart, Sébastien Knecht
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Inadvertent puncture of the subclavian artery is a relatively frequent and potentially disastrous complication of attempted central venous access. Due to its noncompressible location, accidental subclavian arterial cannulation may result in hemorrhage as the sheath is removed. We report a new case of successful percutaneous closure of the subclavian artery which had been inadvertently cannulated, using a closure device based on a collagen plug (Angio-Seal, St. Jude Medical). This was performed in a patient who had received maximal antiplatelet and anticoagulation therapies because of prior coronary stenting in the context of cardiogenic shock. There was no prior angiographic assessment, as arterial puncture was presumed to have been distal to the right common artery and vertebral arteries. No complications were observed in this high-risk patient, suggesting that this technique could be used once the procedure has been evaluated prospectively.
Sitosterolemia: A Case Report and a Concise Literature Review
Authors: Moeber M Mahzari
Journal: Case Rep Endocrinol (2023)
MeSH terms: Case Reports

Background:
Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations in the ABCG5 and ABCG8 genes are associated with pathological changes in sitosterolemia. Case Presentation. An adult patient from Saudi Arabia with dyslipidemia who did not respond to statin therapy. Based on genetic testing, the patient was eventually diagnosed with sitosterolemia. Ezetimibe significantly improved his cholesterol levels.
Conclusion:
The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe.
Clozapine use presenting with pseudopheochromocytoma in a schizophrenic patient: a case report
Authors: Jaskanwal Sara, Matt Jenkins, Tanveer Chohan, Karan Jolly, Lisa Shepherd, Nirav Y Gandhi, Jayadave Shakher
Journal: Case Rep Endocrinol (2013)

Introduction. There have been six previous cases that reported pseudopheochromocytoma in patients taking clozapine. Our case showed the direct link of clozapine to serum levels of certain markers. Case. This is a case of a 49-year-old obese Caucasian female who was referred to endocrinology for investigation of Cushing's syndrome, based on raised blood pressure and Cushingoid facies. The patient had underlying schizophrenia and was stable on clozapine. Her blood pressure was 150/99 mmHg on bendroflumethiazide and candesartan. We measured her 24-hour urinary-free cortisol, which was normal but 24-hour urinary-free noradrenaline was elevated at 835 nmol (76-561) with normal adrenaline 36 nmol (7-82) and dopamine 2679 nmol (366-2879), as the patient had history of palpitations and sweating. Two sets of 24-hour urinary-free cortisol measurements were normal and serum cortisol suppressed to <50 nmol/l after a 1 mg overnight dexamethasone. Two further 24-hour urinary-free catecholamines showed a raised level of noradrenaline. MRI demonstrated normal adrenals and MIBG scan did not show any abnormal uptake at adrenal glands. Conclusion. Pseudopheochromocytoma has been reported in patients taking clozapine. A number of different mechanisms for raised plasma noradrenaline levels with clozapine have been postulated. The above case highlights an unusual but known side effect of clozapine.
Temozolomide-induced myelodysplasia
Authors: Ethan A Natelson, David Pyatt
Journal: Adv Hematol (2010)
MeSH terms: Case Reports

A patient who had received temozolomide (TMZ) as a single agent in treatment of malignant glioma developed therapy-induced myelodysplasia (T-MDS). TMZ is an orally active imidazotetrazine which methylates guanine residues in DNA, ultimately causing single and double-strand DNA breaks leading to apoptotic cell death. TMZ does not chemically cross-link DNA and is considered a nonclassical alkylating agent, similar in structure and activity to dacarbazine. Observations on this patient, and on similarly treated others, suggest that the cumulative dose threshold (CDT) for TMZ that predisposes to T-MDS and which may potentially lead to acute myeloid leukemia (T-AML) is around 18000 to 20000 mg/sq m. Although the incidence of T-MDS and the predisposing CDT of TMZ may differ from that of other potentially leukemogenic compounds currently and formerly used as chemotherapeutic agents, all alkylating agents, including TMZ, should be considered potentially leukemogenic when administered long term.
Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series
Authors: Cristina Maria Mihai, Doina Catrinoiu, Marius Toringhibel, Ramona Mihaela Stoicescu, Negreanu-Pirjol Ticuta, Hancu Anca
Journal: Cases J (2009)

Background:
Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alström syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alström Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alström syndrome.
Case presentation:
The patients were hospitalized and the growth hormone stimulatory tests were made, as well as brain MRI. Insulin provocative test revealed a severe GH deficiency in these patients, defined by a peak response to insulin-induced hypoglycemia less than 3 ng/dl and IGF1 concentrations less than - 2SDS.We didn't find multiple pituitary hormone deficiency and we noticed only a severe GH deficiency in all three patients. The MRI study of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella in one patient.One patient received Recombinant-GH replacement for one year with very good results, one underwent a gastric sleeve with a satisfactory outcome, one patient died due to the progression of the cardiac myopathy.
Conclusion:
Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient. Also, careful clinical and genetic studies can contribute to a better understanding of the evolution after different therapeutical attempt in the complex disorders such as Alström Syndrome.
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies
Authors: Uluç Yis, Figen Baydan, Mert Karakaya, Semra Hız Kurul, Sebahattin Cirak
Journal: Biomed Res Int (2016)
MeSH terms: Choline Kinase / genetics, Intellectual Disability / genetics, Mitochondrial Myopathies / genetics, Muscular Dystrophies / genetics, Case Reports, Child, Child, Preschool, Diagnosis, Differential, High-Throughput Nucleotide Sequencing, Humans, Ichthyosis / diagnosis, Ichthyosis / genetics, Ichthyosis / physiopathology, Intellectual Disability / diagnosis, Intellectual Disability / physiopathology, Mitochondrial Myopathies / diagnosis, Mitochondrial Myopathies / physiopathology, Muscular Dystrophies / diagnosis, Muscular Dystrophies / physiopathology, Mutation, Pruritus / diagnosis, Pruritus / genetics, Pruritus / physiopathology, Psychomotor Disorders / diagnosis, Psychomotor Disorders / genetics, Psychomotor Disorders / physiopathology, Siblings, CHKB protein, human, Choline Kinase

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES) after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene c.1031G>A (p.R344Q) in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.
Prurigo Pigmentosa: A Clinicopathological Report of Three Middle Eastern Patients
Authors: N Almaani, A H Al-Tarawneh, H Msallam
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

Prurigo pigmentosa is a unique cutaneous inflammatory disorder characterized by a sudden onset of pruritic and erythematous macules, urticarial papules, and plaques that may coalesce to form a reticulated pattern. Lesions typically heal within weeks leaving a reticulated and mottled postinflammatory hyperpigmentation. The majority of reported cases originate from Japan with much fewer cases described worldwide without predominant ethnicity. The histopathological features of prurigo pigmentosa can be nonspecific; however, distinct features exist for each stage of the disease. The aetiology of prurigo pigmentosa is not fully understood. However, ketoacidosis has been implicated in the pathogenesis and indeed prurigo pigmentosa has been associated with ketoacidotic states such as diabetes mellitus, fasting, dieting, and anorexia nervosa. In this report, we present 3 Jordanian patients with prurigo pigmentosa and describe their clinicopathological features. One patient developed prurigo pigmentosa while fasting during the month of Ramadan and another was undertaking a strict diet. No associations were identified in the third patient. In view of the largely nonspecific clinical and histological features, a high index of suspicion is required as many cases of prurigo pigmentosa are probably undiagnosed.
A case of scalp avulsion with prolonged ischemic time: indocyanine green angiography can aid in predicting replant survival
Authors: Xin Huang, Zhichao Wang, Caiyue Liu, Shuchen Gu, Yashan Gao, Xiangwen Xu, Tao Zan
Journal: Burns Trauma (2019)
Keywords: icga, indocyanine green angiography, microsurgical replantation, scalp avulsion, tissue perfusion
MeSH terms: Case Reports

Background:
Microsurgical replantation has become the most favorable treatment option for scalp avulsion. However, the accurate prediction of postoperative replant viability remains challenging.
Case presentation:
In this article, we showed that (indocyanine green angiography, ICGA) can provide a much more precise prediction of replant necrosis than conventional clinical assessment in a rare case of complete scalp avulsion with prolonged ischemia time.
Conclusion:
Clinical assessment of replant survival may be misleading in cases of complex tissue injuries and prolonged ischemic stress. This case provides insight into the promising utility of ICGA as an important adjuvant tool to better assess tissue perfusion and viability in scalp avulsion and possibly other types of replantation.
Neonatal acute liver failure with pulmonary yellow hyaline membrane and kernicterus
Authors: Kei Shing Oh, Hisham F Bahmad, Carole Brathwaite, Amilcar Castellano Sanchez, Monica Recine
Journal: Autops Case Rep (2021)
Keywords: bilirubin, brain, kernicterus, lung

Background:
Neonatal acute liver failure (NALF) is a rare and life-threatening condition. It causes bilirubin to accumulate to a dangerous level in the body, causing permanent damage to vital organs such as the brain and lungs. In many cases, the etiology of NALF remains unknown.
Case presentation:
We described a case of an 8-day-old baby girl who presented with poor oral intake, lethargy, and jaundice. Her clinical condition rapidly deteriorated with progression to multi-organ failure, and despite intensive resuscitation efforts, she expired. At autopsy, the most significant findings were liver necrosis, yellow hyaline membrane deposition in the lungs, and bilirubin deposition in the brain (kernicterus).
Conclusions:
NALF is a rare and potentially fatal condition necessitating prompt recognition and disease-specific treatment approaches. Toxic accumulation of bilirubin in the lungs can lead to hypoxia and precipitate further ischemic injury to the liver.
Multiple Sclerosis Presenting with Facial Twitching (Myokymia and Hemifacial Spasms)
Authors: Risha Hertz, James Espinosa, Alan Lucerna, Doug Stranges
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system. The etiology is insufficiently understood. Autoimmune, genetic, viral, and environmental factors have been hypothesized. MS is twice as common in women as in men between the ages of 20 and 50 years. There is no known cure for MS. Current medical treatment helps to prevent new attacks and improve function after an attack. MS is diagnosed by physical examination, diagnostic imaging, and examination of cerebral spinal fluid. The most common physical signs and symptoms of MS include constitutional symptoms, muscle weakness, motor and autonomic spinal cord symptoms, paresthesias, and vision changes. Here we present a case of MS diagnosed in a 33-year-old male with facial myokymia of left eyelid, which progressed to left hemifacial spasm. This is an unusual presentation for multiple sclerosis. An awareness of this presentation not only may lead to an earlier diagnosis in some patients but can be a sign of relapse in patients with established multiple sclerosis.
Congenital anterior urethral diverticulum in a male teenager: a case report and review of the literature
Authors: Sadat Haider Quoraishi, Faisal Khan, Dler Besarani, Krishna Patil
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

We present the case of a 13-year-old boy with a congenital anterior urethral diverticulum. This is a rare condition in males which can lead to obstructive lower urinary tract symptoms and urosepsis. Diagnosis is by urethroscopy and radiological imaging. Surgical treatment can be open or endoscopic. Long-term followup is required to check for reoccurrence of the obstruction.
Caesarean section: epidemiology and indications at General Provincial Hospital of Kananga
Authors: Antoine Tshimbundu Kayembe, Sylvain Mulumba Kapuku
Journal: Pan Afr Med J (2022)
Keywords: caesarean section, kananga, provincial general hospital, epidemiology, indications
MeSH terms: Hospitals, General, Placenta Previa / epidemiology, Case Reports, Adult, Cesarean Section, Female, Humans, Live Birth, Parity, Pregnancy

The aim of our study is to describe the epidemiological profile and indications for caesarean section at the maternity ward of the Provincial General Hospital of Kananga from January 1st 2014 to December 31st 2020. This is a descriptive study of a series of cases from the medical records of cesarean patients and based on non-probabilistic sampling of suitability for cases selection. The sample of our study is composed of 1395 cases. The frequency of caesarean section is 16.10% with an annual average of 199.30 (SD 18.20) cases per year, the average age of patients is 25.39 years (SD 1.23), the primiparity is the most affected with 27.38 %, hemorrhagic placenta previa is the most common indication in 26.86%, maternal complications is present in 46.73% and the maternal mortality rate due to cesarean section is 531 per 100.000 live births. The practice of caesarean section constitutes a real problem and our results can serve as a basis for in-depth studies on indications and maternal complications of caesarean section in order to reduce the risks associated with the practice of caesarean section in our environment.
Prolonged Serum Alanine Aminotransferase Elevation Associated with Isotretinoin Administration
Authors: Roya S Nazarian, Elizabeth Zheng, Caroline Halverstam, Steven R Cohen, Allan W Wolkoff
Journal: Case Reports Hepatol (2019)
MeSH terms: Case Reports

Isotretinoin is a highly effective oral retinoid derivative for severe forms of acne. Despite its high margin of safety, isotretinoin carries a risk of teratogenicity and mild to massive elevations of serum cholesterol and triglyceride levels, as well as infrequent transaminitis. Liver dysfunction induced by isotretinoin is rare but it poses a management dilemma. We describe a 16-year-old male in whom alanine aminotransferase (ALT) rose from a baseline of 13 to 288 U/L after 20 weeks of treatment with 1.0-1.4 mg/kg of oral isotretinoin daily. Though the patient remained asymptomatic, ALT levels did not return to normal limits for approximately 8 months after discontinuation of therapy, an observation that has not been documented in the literature. When oral isotretinoin was readministered for intractable facial acne 3 years later, liver enzymes remained normal throughout the course of therapy. Although the pathogenesis and prognosis of retinoid-induced hepatotoxicity are unknown, this case illustrates that isotretinoin may be safely readministered after normalization of liver function tests.