OpenMed/multicare-articles huggingface dataset:
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism
Authors: Feng Zhu, Min Zhou, Xiuling Deng, Yujuan Li, Jing Xiong
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: dax1, nr0b1 gene, x-linked recessive, adrenal hypoplasia congenita, hypogonadotropic hypogonadism
MeSH terms: Adrenal Insufficiency / genetics, Genetic Diseases, X-Linked / diagnosis, Genetic Diseases, X-Linked / genetics, Hypogonadism / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, DAX-1 Orphan Nuclear Receptor / genetics, Female, Humans, Hypoadrenocorticism, Familial / genetics, Male, Testosterone, DAX-1 Orphan Nuclear Receptor, NR0B1 protein, human, Testosterone

Nuclear receptor subfamily 0 group B member 1 gene (NR0B1) encodes an orphan nuclear receptor that plays a critical role in the development and regulation of the adrenal gland and hypothalamic-pituitary-gonadal axis. In this study, we report a novel mutation in NR0B1 that led to adult-onset adrenal hypoplasia congenita (AHC) and pubertal development failure in a male adult. Clinical examinations revealed hyponatremia, elevated adrenocorticotropic hormone levels, reduced testosterone and gonadotropin levels, and hyper-responses to gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests. Whole-exome sequencing and Sanger sequencing were performed to identify the potential causes of AHC. Candidate variants were shortlisted based on the X-linked recessive models. Sequence analyses identified a novel hemizygous variant of c.1034delC in exon 1 of NR0B1 at Xp21.2, resulting in a frameshift mutation and premature stop codon formation. The c.1034delC/p.Pro345Argfs*27 in the NR0B1 gene was detected in the hemizygous state in affected males and in the heterozygous state in healthy female family carriers. These results expand the clinical features of AHC as well as the mutation profile of the causative gene NR0B1. Further studies are needed to elucidate the biological effects of the mutation on the development and function of the adrenal gland and the hypothalamic-pituitary-gonadal axis.
The Importance of Contextual Factors in Carrying Out Childhood Violence Surveys: a Case Study from Indonesia
Authors: Lauren Rumble, Ali Aulia Ramly, Mu'man Nuryana, Michael P Dunne
Journal: Child Indic Res (2018)
Keywords: indonesia, prevalence survey, survey response, violence against children

Nationally representative research into violence against children is necessary to understand the scale and complexity of such violence and to evaluate prevention efforts. To date, however, most countries do not have adequate data. In 2013, the government of Indonesia conducted a national Violence Against Children Survey (VACS). This was a cross-sectional household survey of male and female 13-to-24- year-olds designed to estimate physical, emotional, and sexual violence prevalence. The target was to interview at least 2580 individuals; but response rates were much lower than anticipated (females = 66.6%; males = 56.1%). Insufficient data was available across several variables and there were unexpected anomalies in obtained data. We conducted a retrospective analysis of the survey to understand impediments and to advise future national efforts in Indonesia and other low-to-middle-income contexts. Survey managers and implementers (n = 22) were interviewed online and in person. We also carried out secondary analysis of the child survey data to identify factors possibly associated with (non-)response and assessed field notes from interviewers. Culturally inappropriate timing of data-collection (during Ramadan) may have had a negative impact on household responsiveness and the availability of children at home. Face-toface interviews in households were considered to impede participation and disclosure. Survey field staff and managers expressed the need for deeper training and a more comprehensive pilot. Recommendations to improve privacy and anonymity include the use of self-administered questionnaires and school-based rather than at-home surveys. These and other findings from this case study may be useful in planning future surveys in Indonesia and similar social and cultural contexts.
A rare association of emphysematous pyelonephritis with unrecognized diabetes and polycystic kidney
Authors: A M Azzini, P Sette, G Castellano, R M Dorizzi
Journal: Indian J Nephrol (2009)
Keywords: emphysematous pyelonephritis (epn), diabetes mellitus, dialysis, polycystic kidney
MeSH terms: Case Reports

Emphysematous pyelonephritis (EPN) is a rare, severe, gas-forming infection for which the treatment of choice is often an immediate nephrectomy, although many reports exist of conservative treatment of cases with antibiotic therapy and percutaneous drainage of abscesses. It usually occurs in diabetic patients and less frequently in subjects with an obstruction of the corresponding renoureteral unit; other predisposing factors are not common. We report here the case of a 51 year-old woman with a rare association of unrecognized diabetes and bilateral polycystic kidney disease who developed monolateral EPN. She had an emergency right nephrectomy and was admitted to Intensive Care Unit (ICU) for septic shock after surgery, requiring intensive resuscitation. The patient was managed with Coupled Plasma Filtration Adsorption (CPFA). Her clinical conditions rapidly improved and the hemofiltration was soon suspended. Urine and blood cultures were positive for the same Escherichia coli, which was susceptible to all tested antibiotics. The patient was transferred to the Nephrology Division and was discharged from the hospital without further dialysis after 34 days. This case report is somewhat unique because of the unusual association between undetected diabetes and polycystic kidney as predisposing factors of a severe infection of the urinary tract.
Giant cardiac myxoma in a patient with thrombocytopenia: is there a physiopathologic link? (a case report)
Authors: Taamallah Karima, Besbes Bouthaina, Haggui Abdeddayem, Fehri Wafa
Journal: Pan Afr Med J (2020)
Keywords: cardiac myxoma, cardiac surgery, case report, echocardiography, thrombocytopenia
MeSH terms: Heart Atria / pathology, Heart Neoplasms / diagnosis, Myxoma / diagnosis, Thrombocytopenia / diagnosis, Case Reports, Aged, Female, Heart Atria / surgery, Heart Neoplasms / pathology, Heart Neoplasms / surgery, Humans, Myxoma / pathology, Myxoma / surgery, Platelet Count, Thrombocytopenia / etiology

Atrial myxoma is the most common primary cardiac tumor. We report the case of left atrium myxoma accompanied by severe thrombocytopenia in a 72-years-old woman. The thrombocytopenia has been discovered 5 years ago, it was explored, no obvious cause was found, the diagnosis of idiopathic thrombocytopenia was retained based on clinical and paraclinical arguments, corticosteroid treatment was ineffective and platelet count remains low. Complete surgical excision of the mass was performed. Platelet count was gradually increased to reach 95 103/µl after 6 months postoperatively. In this report, we highlight that thrombocytopenia might be one rare hematological manifestation of myxoma but need more cases for support. By illustrating this association, we hope to facilitate an earlier diagnosis of cardiac myxoma to treat and avoid complications of both thrombocytopenia and myxoma.
Failed primary percutaneous coronary intervention in a middle-aged man without cardiovascular risk factors: left atrium myxoma
Authors: Nahid Azdaki, Seyedali Moezi, Mahmood Hosseinzadehmaleki, Marjan Farzad
Journal: Pan Afr Med J (2020)
Keywords: cardiac myxoma, embolism, left atrium myxoma
MeSH terms: Heart Neoplasms / diagnosis, Myocardial Infarction / etiology, Myxoma / diagnosis, Percutaneous Coronary Intervention, Case Reports, Embolism / etiology, Heart Atria / pathology, Heart Neoplasms / complications, Heart Neoplasms / pathology, Humans, Male, Middle Aged, Myxoma / complications, Myxoma / pathology, Thrombectomy, Treatment Failure

Embolic events are rare presentation of myxoma, which is one of the most prevalent benign cardiac tumors. Here we report the case of a 53-year-old man with presentation of acute anterior infarction and occlusion of the left anterior descending artery in association with left atrial myxoma. Intracoronary aspiration thrombectomy along with frequent balloon inflation was failed to recover distal coronary blood flow.
Infra-low frequency neurofeedback in persistent postural-perceptual dizziness-Case report
Authors: Roxana Sasu
Journal: Front Hum Neurosci (2022)
Keywords: balance, infra-low frequency, neurofeedback, persistent postural-perceptual dizziness, psychosomatic disorder, vertigo
MeSH terms: Case Reports

Persistent Postural-Perceptual Dizziness, also known as PPPD or 3PD, is a chronic functional vestibular disorder characterized by persistent sensation of rocking or swaying unsteadiness and/ or non-spinning dizziness without vertigo lasting at least 3 months. Symptoms typically worsen with upright posture (like standing or sitting upright), head or body motion and exposure to busy or visually rich environments. The article describes the application of Infra-Low Frequency Neurofeedback (ILF NF) over 32 sessions on an unmedicated individual with symptoms related to PPPD that were still present 3 years after the initial diagnosis. Along with significant reduction in those symptoms, other accompanying symptoms (like anxiety, intrusive violent thoughts, suicidal thoughts) were markedly improved with ILF NFB. Consistent symptom tracking from session to session, as well as before and after CPT data were used to document reported changes with ILF NF.
Curvularia lunata, a rare fungal peritonitis in continuous ambulatory peritoneal dialysis (CAPD); a rare case report
Authors: Haritha Subramanyam, Ramprasad Elumalai, Anupma Jyoti Kindo, Soundararajan Periasamy
Journal: J Nephropharmacol (2015)
Keywords: continuous ambulatory peritoneal diagnosis, curvularia lunata, peritonitis
MeSH terms: Case Reports

Peritonitis is an inflammation of the peritoneum that occurs in patients with end-stage renal disease (ESRD) treated by peritoneal dialysis. Fungal peritonitis is a dreaded complication of peritoneal dialysis. Curvularia lunata is known to cause extra renal disease like endocarditis, secondary allergic bronchopulmonary aspergillosis and endophthalmitis. This case report presents a case of continuous ambulatory peritoneal dialysis peritonitis with this disease and its management. This case is of a 45-year-old man, presented with ESRD, secondary to diabetic nephropathy. After 3 months of hemodialysis the patient was put on continuous ambulatory peritoneal dialysis (CAPD). Local Examination at catheter site showed skin excoriation and purulent discharge. Further peritoneal dialysis (PD) fluid analysis showed neutrophilic leukocytosis and diagnosis of Curvularia lunata PD peritonitis.
Large single cutaneous metastasis of colon adenocarcinoma mimicking a squamous cell carcinoma of the skin: A case report
Authors: Mario Faenza, Giuseppe Del Torto, Pasquale Di Costanzo, Gorizio Pieretti, Rossella Lamberti, Renato Franco, Giuseppe A Ferraro, Giovanni F Nicoletti
Journal: Int J Surg Case Rep (2019)
Keywords: colon cancer, cutaneous metastasis, fasciocutaneous flap, skin cancer

Introduction:
Metastases represent one of the most outstanding characteristics of malignant neoplasms and are relatively rare in the skin, in spite of the great extension of the cutaneous organs. Development of cutaneous metastases from colon cancer is a rare event, usually occurring in widely disseminated disease and commonly leading to a poor prognosis. As to location, cutaneous metastases often favor areas close to the primary malignancy, such as lung cancer and skin metastases on the trunk. However, remote sites as the scalp may be also involved.
Case presentation:
We present the case of a 92-year-old female patient with a massive single nodular skin lesion on her left supraclavicular area, that came back positive for cutaneous metastasis of colon adenocarcinoma.
Discussion:
Cutaneous metastasis of colorectal cancer a rare event (2.3%-6%) that usually occur two years after the detection or resection of the primary tumor. It seldom occurs before the identification of the primary tumor and involvement of secondary organs, such as the liver. There are few cases reported with only cutaneous metastases.
Conclusion:
In conclusion, dermatological evaluation of patients who are undergoing screening or who have already been diagnosed with cancer is extremely important.
Near infrared light examination as part of the management of sporadic pancreatic head insulinoma: Case report
Authors: Dan Petru Constantinescu, Mihaela Ioana Constantinescu, Razvan Alexandru Ciocan, Stefan Chiorescu, Miana Gabriela Pop, Daniela Simona Pintea, Valentin Muntean
Journal: Int J Surg Case Rep (2019)
Keywords: case report, indocyanine green, insulinoma, near infrared light, pancreatic neuroendocrine tumors

Introduction:
We report the case of a 77-year-old female patient with the diagnosis of pancreatic head insulinoma, in whom we used near infrared light (NIR) to detect synchronous pancreatic tumors and potential secondary lymph node or liver involvement. The patient presented with hypoglycemia manifesting by lipothymia. With the diagnosis of secretory neuroendocrine tumor (insulinoma) of the pancreatic head, cephalic pancreatoduodenectomy with the preservation of the pylorus was performed after NIR visualization of the pancreatic tumor mass. At 6, 12, 18 months postoperatively, the patient no longer had hypoglycemia and her general state was good.
Conclusion:
NIR with indocyanine green (ICG) evidences pancreatic neuroendocrine tumors, as well as possible synchronous tumors and secondary lymph node or liver involvement.
Diagnosis and Surgical Management of a Retroperitoneal Lipoma in Pregnancy
Authors: Katharina Mitchell, Kylie Fuller, Alan Thomay, Robert Shapiro
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Retroperitoneal lipomas during pregnancy are very rare. We report a case of a 29-year-old pregnant female who presented with a retroperitoneal lipoma. Our patient presented at 15-week gestation with abdominal pain, distention, and orthopnea. Due to vague symptoms and nonspecific imaging capabilities, retroperitoneal tumors in pregnancy are uniquely challenging with regard to diagnosis and treatment. We describe the unique work up of a retroperitoneal lipoma in pregnancy and the risks and benefits which were considered when optimizing care to the patient. Percutaneous core needle biopsy has accuracy rates for pathologic diagnosis of up to 98% and is largely safe to perform during pregnancy. Surgical resection of this type of tumor does not mandate cesarean delivery in subsequent pregnancies.
Dynamic Lumbosacral Magnetic Resonance Imaging in a Dog with Tethered Cord Syndrome with a Tight Filum Terminale
Authors: Steven De Decker, Vicky Watts, David M Neilson
Journal: Front Vet Sci (2017)
Keywords: cauda equina, conus medullaris, magnetic resonance imaging, spinal dysraphism, spinal malformation
MeSH terms: Case Reports

A 1-year and 11-month- old English Cocker Spaniel was evaluated for clinical signs of progressive right pelvic limb lameness and urinary incontinence. Neurological examination was suggestive of a lesion localized to the L4-S3 spinal cord segments. No abnormalities were seen on magnetic resonance imaging (MRI) performed in the dog in dorsal recumbency and the hips in a neutral position and the conus medullaris ended halfway the vertebral body of L7. An MRI of the hips in extended and flexed positions demonstrated minimal displacement of the conus medullaris in the cranial and caudal directions, respectively. Similar to the images in neutral position, the conus medullaris ended halfway the vertebral body of L7 in both the extended and flexed positions. In comparison, an MRI of the hips in neutral, extended, and flexed positions performed in another English Cocker Spaniel revealed obvious cranial displacement of the conus medullaris with the hips in extension and caudal displacement with hips in flexion. A standard dorsal lumbosacral laminectomy was performed. Visual inspection of the vertebral canal revealed excessive caudal traction on the conus medullaris. After sectioning the distal aspect of the filum terminale, the conus medullaris regained a more cranial position. A neurological examination 4 weeks after surgery revealed clinical improvement. Neurological examinations at 2, 4, 7, and 12 months after surgery did not reveal any abnormalities, and the dog was considered to be clinically normal. Tethered cord syndrome with a tight filum terminale is a very rare congenital anomaly and is characterized by an abnormally short and inelastic filum terminale. Therefore, this disorder is associated with abnormal caudal traction on the spinal cord and decreased physiological craniocaudal movements of the neural structures within the vertebral canal. Although further studies are necessary to evaluate and quantify physiological craniocaudal movement of the spinal cord and conus medullaris in neurologically normal dogs, the results of this report suggest further exploration of dynamic MRI to demonstrate decreased craniocaudal displacement of the conus medullaris in dogs with tethered cord syndrome with a tight filum terminale.
A novel, homozygous mutation in desert hedgehog ( DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
Authors: Karen M Rothacker, Katie L Ayers, Dave Tang, Kiranjit Joshi, Jocelyn A van den Bergen, Gorjana Robevska, Naeem Samnakay, Lakshmi Nagarajan, Kate Francis, Andrew H Sinclair, Catherine S Choong
Journal: Int J Pediatr Endocrinol (2018)
Keywords: dhh, desert hedgehog, disorder of sex development, gonadal dysgenesis, massively parallel sequencing
MeSH terms: Case Reports

Background:

Desert hedgehog (DHH) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herein we report a novel, homozygous mutation of DHH identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis. This novel mutation is two amino acids away from a previously described mutation in a patient who presented with complete gonadal dysgenesis. Adding to the complexity of work-up, our patient also expressed gender identity concern.
Case presentation:
A 14-year-old, phenotypic female presented with primary amenorrhoea and absent secondary sex characteristics. Investigations revealed elevated gonadotrophins with low oestradiol, testosterone of 0.6 nmol/L and a 46, XY karyotype. Müllerian structures were not seen on pelvic ultrasound or laparoscopically and gonadal biopsies demonstrated dysgenetic testes without neoplasia (partial gonadal dysgenesis). The patient expressed gender identity confusion upon initial notification of investigation findings. Formal psychiatric evaluation excluded gender dysphoria. Genetic analysis was performed using a targeted, MPS DSD panel of 64 diagnostic and 927 research candidate genes. This identified a novel, homozygous mutation in exon 2 of DHH (DHH:NM_021044:exon2:c.G491C:p.R164P). With this finding our patient was screened for the possibility of peripheral neuropathy which was not evident clinically nor on investigation. She was commenced on oestrogen for pubertal induction.
Conclusion:
The evaluation of patients with DSD is associated with considerable psychological distress. Targeted MPS enables an affordable and efficient method for diagnosis of 46, XY DSD cases. Identifying a genetic diagnosis may inform clinical management and in this case directed screening for peripheral neuropathy. In addition to the structural location of the mutation other interacting factors may influence phenotypic expression in homozygous DHH mutations.
A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma
Authors: Jin Wook Yi, Hye In Kang, Su-Jin Kim, Chan Yong Seong, Young Jun Chai, June Young Choi, Moon-Woo Seong, Kyu Eun Lee, Sung Sup Park
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister. A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination. Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas. The levels of vanillylmandelic acid and other catecholamines were elevated in 24-hour urine, and an imaging study revealed a right adrenal mass. She underwent laparoscopic adrenalectomy and the final pathologic diagnosis was pheochromocytoma. Mutation screening detected a RET p.D898Y mutation, both in the patient and in the patient's two sons and older sister. This is the first description of a RET D898Y mutation in a pheochromocytoma patient and her family. The mutation should be categorized as a variant of unknown significance because no RET gene related disorders were detected in this family. Long term follow-up will be required to determine the clinical significance of the RET D898Y mutation.
Ultrasound-guided microwave ablation for giant breast leiomyoma: A case report
Authors: Siqi Zhang, Lu Wang, Jianquan Yang, Man Lu
Journal: Front Oncol (2023)
Keywords: breast2, leiomyoma3, microwave ablation4, therapy5, ultrasound1
MeSH terms: Case Reports

Rationale:
Breast leiomyoma is the rarest non-epithelial tumor of the breast. As a benign tumor, its main treatment is regular follow-up. Surgical treatment is often used in clinical practice when patients have symptoms or strongly require treatment. However, if the tumor is large or located around the nipple or areola, the cosmetic effect of surgery is not good, so it is urgent to find new treatment methods. We pioneered the use of microwave ablation in the treatment of giant breast leiomyoma and achieved good results.
Patient concerns:
A 37-year-old female was admitted to hospital because she found a breast mass of approximately 8 cm. She had no obvious clinical symptoms, but had great psychological pressure.
Diagnosis:
Pathological biopsy showed leiomyoma followingly the surgical operation of giant breast leiomyoma was planned. However, the breast mass was large, and the postoperative scar would affect the breast appearance.
Interventions:
The consent was obtained from the patient and her family. The Ultrasound-guided microwave ablation was successfully performed.
Outcomes:
The patient was followed up for 10 months, and the tumor volume ablation rate was 69.8%. The cosmetic effect of breast was excellent.
Lessons:
To our knowledge, this is the first case to using microwave ablation (MWA) for the treatment of breast leiomyoma. Ultrasound-guided MWA can be used for the treatment of breast leiomyoma, especially when the mass is large and requires traditional surgical resection. It can effectively improve the breast aesthetics and further improve the quality of life of patients. However, it is only a case report, and needs more research to verify MWA in breast leiomyoma.