OpenMed/multicare-articles huggingface dataset:
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
Authors: Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: cgl4, ptrf, adipose tissue, leptin, lipodystrophy, muscular dystrophy
MeSH terms: Lipodystrophy / genetics, Lipodystrophy, Congenital Generalized / diagnosis, Lipodystrophy, Congenital Generalized / genetics, Muscular Diseases, Review, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Humans, Mutation, Siblings

Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene. It encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which, together with caveolin 1, is responsible for the biogenesis of caveolae, being a master regulator of adipose tissue expandability. Cavin-1 is expressed in several tissues, including muscles, thus resulting, when dysfunctional, in a clinical phenotype characterized by the absence of adipose tissue and muscular dystrophy. We herein describe the clinical phenotypes of two siblings in their early childhood, with a phenotype characterized by a generalized reduction of subcutaneous fat, muscular hypertrophy, distinct facial features, myopathy, and atlantoaxial instability. One of the siblings developed paroxysmal supraventricular tachycardia leading to cardiac arrest at 3 months of age. Height and BMI were normal. Blood tests showed elevated CK, a mild increase in liver enzymes and triglycerides levels, and undetectable leptin and adiponectin concentrations. Fasting glucose and HbA1c were normal, while Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) was mildly elevated. Both patients were hyperphagic and had cravings for foods rich in fats and sugars. Genetic testing revealed a novel pathogenic mutation of the CAVIN1/PTRF gene (NM_012232 exon1:c T21A:p.Y7X) at the homozygous state. The diagnosis of lipodystrophy can be challenging, often requiring a multidisciplinary approach, given the pleiotropic effect, involving several tissues. The coexistence of generalized lack of fat, myopathy with elevated CK levels, arrhythmias, gastrointestinal dysmotility, and skeletal abnormalities should prompt the suspicion for the diagnosis of CGL4, although phenotypic variability may occur.
A patient with 22q11.2 deletion syndrome: case report
Authors: Sema Kabataş Eryılmaz, Firdevs Baş, Ali Satan, Feyza Darendeliler, Rüveyde Bundak, Hülya Günöz, Nurçin Saka
Journal: J Clin Res Pediatr Endocrinol (2009)
Keywords: 22q112 deletion syndrome, hypocalcemia, hypoparathyroidism
MeSH terms: 22q11 Deletion Syndrome / diagnosis, 22q11 Deletion Syndrome / genetics, Case Reports, Age Factors, Child, Chromosome Deletion, Chromosomes, Human, Pair 22 / genetics, Diagnosis, Differential, Humans, Hypocalcemia / etiology, Hypoparathyroidism / complications, Male, Phenotype, Seizures / etiology, Chromosome 22, microdeletion 22 q11

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.
Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome
Authors: Nurul Inaas Mahamad Apandi, Nor Nazaliza Basri, Ajura Abdul Jalil, Md Arad Jelon
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant disease. It is caused by a gene mutation of the tumour suppressor gene CDC73 that encodes for parafibromin. This syndrome predisposes to a triad occurrence of multiple maxillary or mandibular cemento-ossifying fibroma, parathyroid adenoma or carcinoma, and renal and uterine tumours. In this study, we report a case of HPT-JT occurring in a 30-year-old male patient.
Eosinophilic cystitis refractory to steroids successfully treated with benralizumab: A case report
Authors: George N Konstantinou, Vasiliki Voukelatou
Journal: Front Allergy (2023)
Keywords: asymptomatic, biologics, dysuria, eosinophilia, hematuria, hypereosinophilic syndrome, pelvic pain, urgency
MeSH terms: Case Reports

We report a case of a 66-year-old male diagnosed with refractory to oral corticosteroids eosinophilic cystitis (EoC). Hematuria was the first and only sign of the disease that was otherwise asymptomatic, and the only abnormal lab finding he had was peripheral eosinophilia (700 cells/μl). Due to cardiovascular issues, an invasive surgical procedure was declined. As an alternative, benralizumab, an anti-IL-5Rα monoclonal antibody with anti-eosinophilic properties, was administered. The patient responded rapidly with clinical and histological complete remission of the EoC four months after benralizumab started. He continued benralizumab 30 mg Q4-weeks for 12 months without experiencing any side effects. Six months after the last dose, he is completely healthy with no peripheral eosinophilia. EoC is a rare condition with no standardized treatment. Those with corticosteroid-refractory EoC are eligible for surgery. Benralizumab has an excellent safety profile; therefore, it should be considered before deciding on invasive surgical procedures in selected, refractory to non-specific treatment cases, especially with EoC of unclear etiology. It is unclear if benralizumab may immunomodulate the unknown underlying mechanisms of EoC, considering that EoC did not relapse after benralizumab was deemed eliminated. Further studies are needed to investigate this possibility.
Gastric Glomus Tumor: An Uncommon Source for an Acute Upper GI Bleed
Authors: Douglas Morte, Jason Bingham, Vance Sohn
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Background:
Glomus tumors are uncommon mesenchymal neoplasms originating from modified smooth muscle cells in the glomus body. They are generally small, solitary lesions found in the distal extremities. Rarely, involvement in the abdominal viscera can occur. In such cases, hematemesis/melena and epigastric discomfort are the most common initial symptoms. Although gastric glomus tumors can demonstrate malignant behavior, criteria for identifying malignant potential have yet to be established.
Case presentation:
We present a rare case of gastric glomus tumor in an otherwise healthy 41-year-old female. The patient initially presented with a significant upper GI bleed requiring a 4 U PRBC transfusion for stabilization. An upper endoscopy with endoscopic ultrasound identified an ulcerated, submucosal mass thought to be consistent with GI stromal tumor (GIST). Once clinically stable, she was scheduled for elective resection. However, prior to resection she experienced a second hemodynamically significant upper GI bleed and underwent emergent laparotomy with distal gastrectomy. Pathologic examination revealed a 3 cm glomus tumor.
Conclusion:
Gastric glomus tumors are rare solitary submucosal tumors for which preoperative diagnosis is challenging and can be confused with a GIST. Local resection with negative margins is the preferred treatment and the exact diagnosis relies heavily on histopathological examinations. Currently, there are no clear guidelines regarding the staging and malignant potential of glomus tumors of the stomach.
Successful Surgical Management of an Invasive Adenocarcinoma Within a Duplicated Gallbladder by an Extensive Hepatic Resection: A Case Report
Authors: Zaid Mesmar, Ahmad Alqassieh, Ammar O Mahmood, Jared White
Journal: Cureus (2023)
Keywords: adenocarcinoma, duplicated gallbladder, gallbladder, gallbladder anomalies, hepatobiliary surgeries
MeSH terms: Case Reports

Identifying a duplicated gallbladder is a rather rare entity, but a well-described phenomenon within the current literature. Although this finding has been described in numerous case reports, management remains poorly defined and the diagnosis is often difficult. We present a case of a patient with a suspected duplicated gallbladder versus a choledochocele that was diagnosed later on with adenocarcinoma within a duplicated gallbladder during surgical management requiring extended hepatic resection for curative intent. This case emphasizes the importance of radiological techniques in diagnosing such rare cases and the surgical approach of managing adenocarcinoma in the presence of this rare anatomical malformation.
Spleen metastases secondary to gastric neuroendocrine carcinoma: case report
Authors: Sahar Nasr, Amal Khsiba, Moufida Mahmoudi, Asma Ben Mohamed, Mehdi Bouasida, Lamine Hamzaoui
Journal: Pan Afr Med J (2022)
Keywords: spleen, case report, metastases, neuroendocrine carcinoma, stomach
MeSH terms: Carcinoma, Neuroendocrine / diagnosis, Carcinoma, Neuroendocrine / pathology, Neuroendocrine Tumors / diagnosis, Neuroendocrine Tumors / pathology, Splenic Neoplasms / diagnosis, Stomach Neoplasms / diagnosis, Stomach Neoplasms / pathology, Case Reports, Humans, Male, Middle Aged

Neuroendocrine carcinoma (NEC) in the stomach represents a rare and rapidly growing type of gastric tumors. They are considered a distinct entity of neuroendocrine tumors characterized by an aggressive behavior and high metastases rate. On the other hand, spleen metastases of neuroendocrine tumors are extremely rare. We report the first case of spleen metastases of gastric neuroendocrine carcinoma. The patient was a 54-year-old male who presented with a 10-month history of epigastralgia. Upper gastro-intestinal endoscopy revealed a 5 cm ulcerative lesion located in the greater gastric curvature. Biopsies with immunohistochemical staining revealed gastric neuroendocrine carcinoma. Abdominal computed tomography showed thickening of the stomach with two large solid spleen lesions. Abdominal Magnetic Resonance Imaging and 18-fluorodexyglucose positron-emission tomography revealed peritoneal carcinosis and splenic metastases with splenic vein invasion. Clinicians should keep in mind that splenic metastases can arise from gastric neuroendocrine tumors (NETs).
Anorectal Injuries due to Foreign Bodies: Case Reports and Review of the Management Options
Authors: Faruk Karateke, Koray Das, Sefa Ozyazici, Ebru Menekse, Zikret Koseoglu, Ozgur Karcioglu
Journal: Case Rep Surg (2013)

Anorectal injuries due to autoerotic activity with rectal foreign bodies were identified in four male patients. The objects were bottle in one patient, glasses in two patients, and showerhead in one patient. Foreign bodies were extracted within lithotomy position after anal dilatation, under general anesthesia in 3 patients. One patient presented with peritoneal irritation and had a diagnosis of rectal perforation. He underwent transanal rectal repair with proximal fecal diversion. In this paper we described 4 patients who had anorectal injuries due to autoerotic activity with foreign bodies and reviewed the management options in literature.
Rare case of renal cell carcinoma with mandibular swelling as primary presentation
Authors: Aleena Jallu, Manzoor Latoo, Rafiq Pampori
Journal: Case Rep Urol (2013)

Introduction. Renal cell carcinoma accounts for approximately 3% of adult malignancies and 90-95% of neoplasms arising from the kidney. This disease is characterized by a lack of early warning signs, diverse clinical manifestations, and resistance to radiation and chemotherapy. Approximately one-third of patients with renal cell carcinoma have metastatic disease at initial presentation. Fifteen percent of patients with renal cell carcinoma are said to present with metastases in the head and neck region. Most of the metastases from RCC to the head and neck involve the thyroid gland. The head and neck are unusual sites for metastases, but skin, skeletal muscle, thyroid gland, nasal cavity and paranasal sinus metastases have been reported. Case Report. The following report describes a rare case where the patient presented with mandibular swelling of short duration as the primary complaint without any symptom or sign pertaining to urinary tract and was found to have renal cell carcinoma on further workup. Conclusion. Metastatic renal cell carcinoma is a diagnostic dilemma especially when there is no pointer historically towards renal cell carcinoma as was in our case. An unusual vascular osteolytic lesion in head and neck in a middle-aged person should be dealt with high index of suspicion with renal cell carcinoma at the back of the mind.
Combination Therapy With Anti-PD-1 or PD-1 Antibody Alone in Asian Pediatric Patients With Relapsed or Refractory Cancer
Authors: Yi Que, Juan Wang, Jia Zhu, Na Li, Junting Huang, Suying Lu, Feifei Sun, Lian Zhang, Zijun Zhen, Li Zhang, Ruiqing Cai, Haixia Guo, Xiaofei Sun, Yizhuo Zhang
Journal: Front Immunol (2021)
Keywords: pd-1 antibody, pd-l1, combination, monotherapy, pediatric cancer
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Agents, Immunological / therapeutic use, Burkitt Lymphoma / therapy, Hodgkin Disease / therapy, Immune Checkpoint Inhibitors / therapeutic use, Immunotherapy / methods, Melanoma / therapy, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Skin Neoplasms / therapy, Clinical Trial, Multicenter Study, Observational Study, Research Support, Non-U.S. Gov't, Adolescent, Burkitt Lymphoma / epidemiology, Burkitt Lymphoma / immunology, Child, Child, Preschool, China / epidemiology, Drug Therapy, Combination / methods, Female, Follow-Up Studies, Hodgkin Disease / epidemiology, Hodgkin Disease / immunology, Humans, Infant, Male, Melanoma / epidemiology, Melanoma / immunology, Retrospective Studies, Skin Neoplasms / epidemiology, Skin Neoplasms / immunology, Treatment Outcome, Antibodies, Monoclonal, Humanized, Antineoplastic Agents, Immunological, Immune Checkpoint Inhibitors, PDCD1 protein, human, Programmed Cell Death 1 Receptor

There is limited experience of PD-1 antibody combined with other therapies in children. We aimed to explore the antitumor activity and safety of PD-1 antibody monotherapy or combination with other regimens in relapsed or refractory pediatric cancer. This is a retrospective-case study conducted in two Chinese expert centers. The primary objective of this study was to describe the overall response rate (ORR) and disease control rate (DCR). Secondary objectives included characterizing toxicities. Of the 22 pediatric patients with cancer who received PD-1 inhibitors, the median follow-up for all patients after the commencement of PD-1 therapy with or without other regimens was 12.3 months (0 - 43 months). PD-1 antibody monotherapy demonstrated antitumor activity in a population of pediatric patients with Hodgkin lymphoma (HL), with an objective response rate (ORR) and disease control rate (DCR) of 83.3% (3CR and 2PR) and 100%, respectively. However, no objective response was observed in patients with melanoma or Burkitt lymphoma evaluated in this study. We reviewed responses for patients with chemotherapy, decitabine or everolimus combination therapies with PD-1 antibodies, and found that PD-1 antibody combined with decitabine showed potential efficacy in pediatric patients with advanced embryonal rhabdomyosarcoma and lymphoepitheliomatoid-like carcinoma. There were no severe treatment-related adverse events (TRAEs) directly attributed to PD-1 antibody monotherapy in Asian pediatric patients with lower incidence of hematologic toxicity and nonhematologic toxicity. The Grade ≥3 TRAEs were attributed to the combination chemotherapy.
Reproductive, maternal, neonatal and child health in conflict: a case study on Syria using Countdown indicators
Authors: Jocelyn DeJong, Hala Ghattas, Hyam Bashour, Rima Mourtada, Chaza Akik, Amelia Reese-Masterson
Journal: BMJ Glob Health (2017)
Keywords: child health, maternal health, public health

Introduction:
Women and children account for a disproportionate morbidity burden among conflict-affected populations, and yet they are not included in global accountability frameworks for women's and children's health. We use Countdown to 2015 (Millennium Development Goals) health indicators to provide an up-to-date review and analysis of the best available data on Syrian refugees in Jordan, Lebanon and Turkey and internally displaced within Syria and explore data challenges in this conflict setting.
Methods:
We searched Medline, PubMed, Scopus, Popline and Index Medicus for WHO Eastern Mediterranean Region Office and relevant development/humanitarian databases in all languages from January 2011 until December 2015. We met in person or emailed relevant key stakeholders in Lebanon, Jordan, Syria and Turkey to obtain any unpublished or missing data. We convened a meeting of experts working with these populations to discuss the results.
Results:
The following trends were found based on available data for these populations as compared with preconflict Syria. Birth registration in Syria and in host neighbouring countries decreased and was very low in Lebanon. In Syria, the infant mortality rate and under-five mortality rate increased, and coverage of antenatal care (one visit with a skilled attendant), skilled birth attendance and vaccination (except for DTP3 vaccine) declined. The number of Syrian refugee women attending more than four antenatal care visits was low in Lebanon and in non-camp settings in Jordan. Few data were available on these indicators among the internally displaced. In conflict settings such as that of Syria, coverage rates of interventions are often unknown or difficult to ascertain because of measurement challenges in accessing conflict-affected populations or to the inability to determine relevant denominators in this dynamic setting.
Conclusion:
Research, monitoring and evaluation in humanitarian settings could better inform public health interventions if findings were more widely shared, methodologies were more explicit and globally agreed definitions and indicators were used consistently.
Multiple Cranial Nerve Palsies in a Pediatric Case of Lemierre's Syndrome due to Streptococcus viridans
Authors: Samantha Novotny, Kenneth Serrano, Danielle Bazer, Louis Manganas
Journal: Case Rep Neurol Med (2021)
MeSH terms: Case Reports

Background:
Lemierre's syndrome is a rare condition of internal jugular vein thrombosis following oropharyngeal infection. While it usually results from Fusobacterium necrophorum infection, atypical cases associated with other pathogens have been reported.
Objective:
To describe a unique case of pediatric Lemierre's syndrome with Streptococcus viridans infection resulting in cavernous sinus thrombosis and oculomotor, trochlear, and abducens nerve palsies. Case Report. A 14-year-old female initially presented after six days of fever, myalgias, and sore throat and was admitted for hyperbilirubinemia and acute kidney injury. She developed a fixed, dilated pupil with complete ophthalmoplegia, ptosis, and severe pain. Imaging revealed retromandibular space abscess, external and internal jugular vein thrombosis, cavernous sinus thrombosis, internal carotid artery stenosis, pulmonary embolism, and bilateral pneumonia. She was diagnosed with Lemierre's syndrome with cultures positive for Streptococcus viridans and treated with a combination of antibiotics and anticoagulation. Conclusion and Relevance. Both antibiotics and anticoagulation were effective management for this Lemierre's syndrome patient with cavernous sinus thrombosis. Early diagnosis and treatment of Lemierre's syndrome is essential. A multidisciplinary treatment team is beneficial for managing the sequelae of this condition.
Repeated Sprint Training in Hypoxia: Case Report of Performance Benefits in a Professional Cyclist
Authors: Raphael Faiss, Arnaud Rapillard
Journal: Front Sports Act Living (2020)
Keywords: case study, cycling, hypoxia, performance, sprint
MeSH terms: Case Reports

Repeated sprint training in hypoxia (RSH) has gained unprecedented popularity among the various strategies using hypoxia as an additional stimulus to improve performance. This case study reports the benefits of 150 repeated sprints in normobaric hypoxia over 10 days in a professional cyclist. After 3 weeks of endurance training in November, the cyclist performed five RSH sessions at a simulated altitude of 3,300 m on his own bicycle attached to an indoor trainer in a hypoxic chamber (FiO2 14.1 ± 0.1%, PiO2 94.6 ± 1.4 mm Hg). Each session consisted of four blocks of seven all-out sprints of 6 s interspersed with 14 s active recovery (for a total of 126 s per block). After 12 min of warm-up with a single isolated 6 s reference sprint, the sessions included a first and a second sprinting block with 4 min 54 s active recovery in-between. After 9 min 54 s active recovery including an isolated 6 s reference sprint, a third and a fourth block were performed with 4 min 54 s active recovery in-between, before an active cool-down of 9 min 54 s. The total duration was thus of 50 min per session for a total hypoxic exposure of 250 min exercising. Power output and heart rate were monitored at 1 Hz. Lactate concentration ([La]) and pulse oxygen saturation (SpO2) were measured at the start and end of each block during the first and fifth training session. Basal SpO2 was of 83% during session one and 85.5% during session five. When comparing the first and fifth training session, peak power increased for the best 1 s value (+8%) and the best 5 s average (+10%) to reach 1,041 W and 961 W, respectively. Average power for all blocks (including active recoveries) increased from 334 to 354 W with a similar average heart rate during the sessions (146'.min-1). Peak [La] was increased from 12.3 to 13.8 mmol.l-1. In conclusion, this case report illustrates a 10-days RSH intervention perceived as efficient in a professional cyclist and shown to improve total work (6-s sprints) produced for a similar physiological strain.
Liver Abscess Caused by Pannonibacter phragmitetus: Case Report and Literature Review
Authors: Mingxi Wang, Xia Zhang, Tao Jiang, Shaohua Hu, Zhengjun Yi, Yajun Zhou, Desong Ming, Shicheng Chen
Journal: Front Med (Lausanne) (2017)
Keywords: klebsiella pneumoniae, pannonibacter phragmitetus, streptococcus oralis, bacterial hepatic abscess, polymicrobial infection
MeSH terms: Case Reports

Background:
Bacterial hepatic abscess is a common occurrence in developing countries, which is mostly caused by Klebsiella pneumoniae and Escherichia coli. Pannonibacter phragmitetus is a Gram-negative alkali-tolerant bacillus that exists in the natural environment. Human infection by this bacterium is rare, with only four cases reported.
Method:
We presented one of these cases with a bacterial liver abscess by a polymicrobial infection involving P. phragmitetus and Streptococcus oralis, with P. phragmitetus being the predominate isolate.
Result and discussion:
Our strain of P. phragmitetus was resistant to more antibiotics than the other reported two strains. This case further verified the infectivity of P. phragmitetus.