OpenMed/multicare-articles huggingface dataset:
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations
Authors: Rongxin Dai, Ge Lv, Wenyan Li, Wenjing Tang, Junjie Chen, Qiao Liu, Lu Yang, Min Zhang, Zhirui Tian, Lina Zhou, Xin Yan, Yating Wang, Yuan Ding, Yunfei An, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao
Journal: Front Immunol (2021)
Keywords: g-csf treatment, g6pc3, nets, apoptosis, neutrophils, severe congenital neutropenia
MeSH terms: Congenital Bone Marrow Failure Syndromes / genetics, Congenital Bone Marrow Failure Syndromes / immunology, Glucose-6-Phosphatase / genetics, Neutropenia / congenital, Neutrophils / immunology, Case Reports, Research Support, Non-U.S. Gov't, Asian People / genetics, Child, Humans, Male, Mutation, Missense, Neutropenia / genetics, Neutropenia / immunology, Glucose-6-Phosphatase, G6PC3 protein, human, Neutropenia, Severe Congenital, Autosomal Recessive 3

Background:
SCN4 is an autosomal recessive disease caused by mutations in the G6PC3 gene. The clinical, molecular, and immunological features; function of neutrophils; and prognosis of patients with SCN4 have not been fully elucidated.
Methods:
Two Chinese pediatric patients with G6PC3 mutations were enrolled in this study. Clinical data, genetic and immunologic characteristics, and neutrophil function were evaluated in patients and controls before and after granulocyte colony-stimulating factor (G-CSF) treatment.
Results:
Both patients had histories of pneumonia, inguinal hernia, cryptorchidism, and recurrent oral ulcers. Patient 1 also had asthma and otitis media, and patient 2 presented with prominent ectatic superficial veins and inflammatory bowel disease. DNA sequencing demonstrated that both patients harbored heterozygous G6PC3 gene mutations. Spontaneous and FAS-induced neutrophil apoptosis were significantly increased in patients, and improved only slightly after G-CSF treatment, while neutrophil respiratory burst and neutrophil extracellular traps production remained impaired in patients after G-CSF treatment.
Conclusion:
G-CSF treatment is insufficient for patients with SCN4 patients, who remain at risk of infection. Where possible, regular G-CSF treatment, long-term prevention of infection, are the optimal methods for cure of SCN4 patients. It is important to monitor closely for signs of leukemia in SCN4 patients. Once leukemia occurs in SCN4 patients, hematopoietic stem cell transplantation is the most important choice of treatment.
Akathisia after chronic usage of synthetic cathinones: A case study
Authors: Niels Albert, Kirsten Catthoor, Manuel Morrens
Journal: Front Psychiatry (2022)
Keywords: barnes akathisia rating scale (bars), akathisia, extrapyramidal symptoms, new psychoactive substances, synthetic cathinones, toxicology
MeSH terms: Case Reports

Introduction:
Synthetic cathinones are a heterogenous group of new psychoactive substances (NPS) with a surging prevalence of use. They are sold under the name of "Bath Salts," "Legal Highs" or "Research Chemical." It is a heterogeneous group of substances that have a varying binding selectivity and affinity. Due to limited availability of NPS screening tests, inadequate legislation, the exponential increases in availability of new NPS and the comorbid use of other illicit substances, scientific research remains scarce. As a result, insight in their mental and psychomotor effects is limited.
Case description:
We present a case of a 21-year-old woman with daily usage of synthetic cathinones, more specifically α-Pyrrolidinopentiophenone (α-PVP-better known as "Flakka"), α-Pyrrolidinohexiophenone (α-PHP) and alpha-Pyrrolidinoisohexaphenone (α-PHiP). Besides a severe paranoid psychotic state of mind, characterized by persecutory and somatic delusions, there was also a very pronounced psychomotor restlessness during the whole period of hospitalization which was diagnosed as akathisia. She reported that she was unable to sit during meals, had difficulty standing still and felt a constant urge to pay attention to the restlessness. The patient did not take any antipsychotic medication at admission.
Results:
The patient was treated in accordance with the current guidelines concerning akathisia with a combination of Quetiapine 200 mg, Propranolol 80 mg, Diazepam 10 mg, Biperiden 4 mg, and Mirtazapine 15 mg without any sufficient alleviation of complaints. Before the start of the treatment, Barnes Akathisia Rating Scale (BARS) score was 11 out of 14 which evolved toward a score of 7 over the course of the 40 day hospitalization, implying persisting severe akathisia which only improved modestly.
Conclusion:
The current case suggests that besides cocaine, amphetamines and methamphetamines, synthetic cathinones can also increase the risk for development of extrapyramidal symptoms such as akathisia. Especially a-PVP-analogs as used by the current patient and Pyrovalerone-analogs such as Methylenedioxypyrovalerone (MDPV) are very powerful dopamine reuptake-inhibitors which might lead to strong locomotor activation. Up to this day it remains very difficult to establish a guideline concerning the treatment of intoxication with synthetic cathinones or dependence thereof.
Enteroscopic sclerotherapy in blue rubber bleb nevus syndrome
Authors: Shoubin Ning, Yafei Zhang, Zhanfei Zu, Xuyan Mao, Gaoping Mao
Journal: Pak J Med Sci (2015)
Keywords: blue rubber bleb nevus syndrome, enteroscope, sclerotherapy, vascular malformation
MeSH terms: Case Reports

Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by multiple vascular malformations of varying size and appearance that present predominantly on the skin and within the gastrointestinal tract and, less often, in other internal organs. Gastrointestinal lesions of BRBNS can cause acute or chronic bleeding, and the treatment is challenging. In this case, we reported a successful treatment of vascular malformations in all segments of gastrointestinal tract, including the small intestine, by endoscopic sclerotherapy, in a 10-year-old boy with BRBNS.
Postoperative Excessive Bleeding following Stainless-Steel Crown Placement in Healthy Children with a Suggested Approach for Prevention
Authors: Oren Liat, Spierer Shoshana, Friedlander Barenbaum Silvina, Yarom Noam, Ben-Amitai Dan, Ashkenazi Malka
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Stainless-Steel Crown (SSC) placement is a common treatment in children, usually without significant adverse consequences. The present case series reports six healthy children were admitted to emergency rooms in two medical centers with delayed excessive bleeding from their gingiva, adjacent to newly placed SSCs. The bleeding, in some cases, was so extensive, that it induced vomiting and anxiety, among the children and their parents, and in two cases required surgical suturing. In all six cases, the most probable etiology was a toxic reaction to the released nickel or chromium ions from the SSCs, exacerbated by contact with wounded and bleeding gingiva. Expression of this cytotoxic mode of action, due to metal ions released from SSCs, is not well documented in children. Our aims are to raise awareness of this unique complication and to suggest an approach to minimize and prevent its occurrence. Recommended immediate treatment includes frequent rinsing of the gingiva to wash out released metal ions and decrease their toxic effect. Furthermore, in the following appointments, we recommend using only SSCs previously soaked in water for several weeks, using zirconia crowns, or using Hall's technique when appropriate.
Hybrid carcinoma of the larynx: a case report (adenoid cystic and adenocarcinoma) and review of the literature
Authors: Ilias Karasmanis, John K Goudakos, Iosif Vital, Thomas Zarampoukas, Victor Vital, Konstantinos Markou
Journal: Case Rep Otolaryngol (2013)

Introduction. The nonsquamous carcinomas of the larynx are considered rare with the majority of malignant tumors in this area, reaching the rate of 95%, to be squamous cell neoplasms. Case Report. The case refers to a 53-year-old man that presented with symptomatology of motor nerve disease. During the evaluation of the neurologic disease, a subglottic mass of the larynx was revealed accidentally in the imaging examination. Under general anesthesia, we performed direct laryngoscopy and biopsy of the mass. The histopathologic examination revealed a hybrid carcinoma coexistence of two different carcinomas, an adenoid cystic carcinoma and an adenocarcinoma, not otherwise specified with poor differentiation. Regarding the therapeutic plan, the mass was considered inoperable due to its expansion to trachea and the patient received radiotherapy. Conclusions. Both the adenocarcinoma and adenoid cystic carcinoma are extremely rare types of malignant tumors in the larynx. The special interest of the present case is the coexistence of these two rare tumors in the same region of the larynx, being a hybrid tumor of the salivary glands in the larynx, which is the second reported case, based on our systematic literature review.
Primary cardiac synovial sarcoma: a case report and brief review of the literature
Authors: Brian Boulmay, Gary Cooper, John D Reith, Robert Marsh
Journal: Sarcoma (2007)
MeSH terms: Case Reports

Synovial sarcoma comprises approximately 10% of all soft tissue sarcoma diagnoses; a primary synovial sarcoma of the myocardium is exceedingly rare. There have been very few cases reported in the literature thus far. With the identification of the characteristic and diagnostic chromosomal abnormality t(X;18), this may become an increasingly recognized entity. Our report adds to the limited published cases of primary cardiac synovial sarcoma with the characteristic t(X;18). Further elucidation of the effects of this translocation on the cell cycle may lead to directed therapies in the future.
Three-dimensional ultrasound findings in cornelia de lange syndrome: a case report
Authors: Yoichiro Akahori, Hisashi Masuyama, Yumi Masumoto, Yuji Hiramatsu
Journal: Case Rep Obstet Gynecol (2012)

Introduction. The objective is to report a case of Cornelia de Lange syndrome (CdLS) diagnosed by detailed observations using three-dimensional sonography. Case Report. A 33-year-old healthy multipara was referred to our hospital at 34-week gestation after severe fetal growth restriction, congenital heart anomaly, and antebrachium abnormality were diagnosed during the third trimester. Further sonography diagnosis on cardiac abnormalities diagnosed the existence of ventricular septal defect in the outflow tract, atrioventricularis communis, and truncus arteriosus communis where the pulmonary artery branched from the common arterial trunk. As for abnormalities of the forearms, ectrodactylia and monodactylism were suspected and the abnormalities were observed sterically by using three-dimensional sonography. A 1986 g (1.07 percentile) male newborn was delivered by assisted breech extraction at 37-week gestation. After birth, from characteristic facies including bushy eyebrow, broad nasal bridge, micrognathia, and abnormalities of the forearms (ectrodactylia and monodactylism), the case was diagnosed with CdLS. Conclusion. Through detailed observation including abnormalities of fingers, we could exemplify this very rare disease as an antenatal diagnoses for fetal growth retardation.
POU1F1 is a novel fusion partner of NUP98 in acute myeloid leukemia with t(3;11)(p11;p15)
Authors: Susana Lisboa, Nuno Cerveira, Susana Bizarro, Cecília Correia, Joana Vieira, Lurdes Torres, José M Mariz, Manuel R Teixeira
Journal: Mol Cancer (2013)
MeSH terms: Adenocarcinoma / therapy, Breast Neoplasms / therapy, Leukemia, Myeloid, Acute / diagnosis, Neoplasms, Second Primary / genetics, Nuclear Pore Complex Proteins / genetics, Transcription Factor Pit-1 / genetics, Case Reports, Research Support, Non-U.S. Gov't, Base Sequence, Chromosomes, Human, Pair 11 / genetics, Chromosomes, Human, Pair 3 / genetics, Combined Modality Therapy, Female, Humans, Leukemia, Myeloid, Acute / genetics, Middle Aged, Neoplasms, Second Primary / diagnosis, Oncogene Proteins, Fusion / genetics, Sequence Analysis, DNA, Translocation, Genetic, Nuclear Pore Complex Proteins, Nup98 protein, human, Oncogene Proteins, Fusion, POU1F1 protein, human, Transcription Factor Pit-1

Background:
NUP98 gene rearrangements have been reported in acute myeloid leukemia, giving rise to fusion proteins that seem to function as aberrant transcription factors, and are thought to be associated with poor prognosis.
Findings:
A patient with treatment-related acute myeloid leukemia presented a t(3;11)(p11;p15) as the only cytogenetic abnormality. FISH and molecular genetic analyses identified a class 1 homeobox gene, POU1F1, located on chromosome 3p11, as the fusion partner of NUP98. In addition, we have found that the patient harbored an FLT3-ITD mutation, which most likely collaborated with the NUP98-POU1F1 fusion gene in malignant transformation.
Conclusions:
We have identified POU1F1 as the NUP98 fusion partner in therapy-related AML with a t(3;11)(p11;p15). This is the first POU family member identified as a fusion partner in human cancer.
Chronic Subdural Hematoma Associated with Thrombocytopenia in a Patient with Human Immunodeficiency Virus Infection in Cameroon
Authors: Clovis Nkoke, Engelbert Bain Luchuo, Denis Teuwafeu, Ines Nepetsoun, Cyrille Nkouonlack
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Hematological abnormalities including thrombocytopenia are common in patients living with HIV infection. Patients with HIV infection related thrombocytopenia present generally with only minor bleeding problems. But cases of subdural hematoma are very rare. A 61-year-old female with a history of HIV infection of 9 years' duration presented with a 3-month history of generalized headache associated with visual blurring and anterograde amnesia. There was no history of trauma or fever. She was treated empirically for cerebral toxoplasmosis for 6 weeks without any improvement of the symptoms. One week prior to admission, she developed weakness of the left side of the body. Clinical examination revealed left-sided hemiparesis. Computed tomography scan of the brain showed a 25 mm chronic right frontoparietotemporal subdural hematoma compressing the lateral ventricle with midline shift. There was no appreciable cerebral atrophy. A complete blood count showed leucopenia and thrombocytopenia at 92,000 cells/mm3. Her CD4-positive cell count was 48 cells/mm3 despite receiving combination antiretroviral therapy for 9 years. A complete blood count analysis suggestive of thrombocytopenia should raise suspicion of possibilities of noninfectious focal brain lesions like subdural hematoma amongst HIV infected patients presenting with nonspecific neurological symptoms. This will enable prompt diagnosis and allow early appropriate intervention.
Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A
Authors: Juan Antonio García-Carmona, Matthew J Yousefzadeh, Fernando Alarcón-Soldevilla, Eva Fages-Caravaca, Tra L Kieu, Mariah A Witt, Ángel López-Ávila, Laura J Niedernhofer, José Antonio Pérez-Vicente
Journal: Front Genet (2021)
Keywords: dna repair activity, mutation, neurode generation, nucleotide excision repair, rare diseases, xeroderma pigmentosum group a
MeSH terms: Case Reports

We aimed to determine if an adolescent patient presenting with neurological impairment has xeroderma pigmentosum (XP). For this purpose, whole-exome sequencing was performed to assess mutations in XP genes. Dermal fibroblasts were established from a skin biopsy and XPA expression determined by immunoblotting. Nucleotide excision repair (NER) capacity was measured by detection of unscheduled DNA synthesis (UDS) in UVC-irradiated patient fibroblasts. Genetic analysis revealed two recessive mutations in XPA, one known c.682C>T, p.Arg228Ter, and the other c.553C>T, p.Gln185Ter, only two cases were reported. XPA protein was virtually undetectable in lysates from patient-derived fibroblast. The patient had significantly lower UV-induced UDS (3.03 ± 1.95%, p < 0.0001) compared with healthy controls (C5RO = 100 ± 12.2; C1UMN = 118 ± 5.87), indicating significant NER impairment. In conclusion, measurement of NER capacity is beneficial for the diagnosis of XP and in understanding the functional impact of novel mutations in XP genes. Our findings highlight the importance of neurologists considering XP in their differential diagnosis when evaluating patients with atypical neurodegeneration.
A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade
Authors: Jawad Al-Khafaji, Fran Ganz-Lord, Venkata Rajesh Konjeti, Aaron D Viny
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals. In this report, we present a patient with late-onset FMF with extensive lymphadenopathy in all of the aforementioned anatomic regions. Genetic analysis identified three heterozygous pyrin mutations in a patient with no affected family members. Genetic investigation of the patient's mother identified a novel carrier haplotype E148Q/P369S. The proband also inherited the previously described and rare A744S mutation previously not thought to be a disease-defining lesion. This unique compound heterozygous genotype resulted in a novel genotype-phenotype association producing an atypical clinical presentation of FMF that fits within the pattern of several case reports of late-onset disease with respect to clinical course and therapeutic response.
Early and Late Endograft Limb Proximal Migration with Resulting Type 1b Endoleak following an EVAR for Ruptured AAA
Authors: Patrick T Jasinski, Demetri Adrahtas, Spyridon Monastiriotis, Apostolos K Tassiopoulos
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

Introduction. Seal zone failure after EVAR leads to type 1 endoleaks and increases the risk of delayed aortic rupture. Type 1b endoleaks, although rare, represent a true risk to the repair. Case Presentation. We report the case of a 65-year-old female who underwent emergent endovascular repair for a ruptured infrarenal abdominal aortic aneurysm and developed bilateral type 1b endoleaks following proximal migration of both endograft limbs. The right-side failure was diagnosed within 48 hours from the initial repair and the left side at the 1-year follow-up. Both sides were successfully treated with endovascular techniques. A review of the literature with an analysis of potential risk factors is also reported. Conclusion. For patients undergoing EVAR for ruptured AAA and with noncalcified iliac arteries, more aggressive oversizing of the iliac limbs is recommended to prevents distal seal zone failures.
Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
Authors: Pan Li, Yuanyuan Y, Hao Cai, Huihong Zhang, Yuying Zhou
Journal: Front Neurol (2022)
Keywords: tbk1 gene mutation, biomarkers, early-onset alzheimer's disease, neuroimaging, psychobehavioral abnormalities
MeSH terms: Case Reports

TANK1-binding kinase 1 (TBK1) is mainly involved in the regulation of various cellular pathways through the autophagic lysosomal system, and the loss of function or hypofunction caused by TBK1 gene mutation mainly leads to frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and ALS-FTLD. Alzheimer's disease (AD) due to TBK1 gene mutation is extremely rare, and only one case has been reported in China so far. In this report, we described a patient with early-onset AD (EOAD) in whom a new probable pathogenic variant c.704A>T (p.Tyr235Phe) in the TBK1 gene was identified by a whole-genome sequencing analysis. It is suggested that FTLD gene mutation may exist in patients with clinical manifestations of AD.
Benign Intracranial Hypertension Due to Hypoparathyroidism: A Case Report
Authors: Giorgia Sforza, Annalisa Deodati, Romina Moavero, Laura Papetti, Ilaria Frattale, Federico Vigevano, Stefano Cianfarani, Massimiliano Valeriani
Journal: Front Neurol (2022)
Keywords: children, headache, hypoparathyroidism, idiopathic intracranial hypertension, pseudotumor cerebri (ptc)

Objective: The objective of this study is to present the rare case of a young girl with idiopathic intracranial hypertension secondary to hypoparathyroidism. Background: Idiopathic intracranial hypertension is a neurological syndrome characterized by elevated intracranial pressure (> 25 cmH2O) in the absence of intracerebral abnormalities or hydrocephalus. The pathophysiology of idiopathic intracranial hypertension is unknown, and rare cases of idiopathic intracranial hypertension secondary to hypoparathyroidism have been described. It is supposed that hypocalcemia causes decrease in the absorption of cerebrospinal fluid in arachnoidal granulations. Methods: The workup of the girl with idiopathic intracranial hypertension and hypoparathyroidism included physical examination, blood tests, diagnostic imaging, and lumbar puncture. Results: We present a 9-year-old female patient who was hospitalized for headache associated with nausea and vomiting for 3 weeks. She underwent an ophthalmologic examination that revealed papilledema. Lumbar puncture revealed an opening pressure of 65 cm H2O; cerebrospinal fluid analysis and brain computed tomography scan were normal. The patient started taking acetazolamide. Blood tests revealed hypocalcemia associated with high phosphorus level and undetectable PTH hormone, which led us to suspect hypoparathyroidism. She had never had cramps, paraesthesias, or tetany. Chvostek's and Trousseau's signs were positive. In the neck ultrasonography, parathyroids were not visible. Oral supplementation with calcitriol and calcium was started. Headache, nausea, and vomiting immediately disappeared after the lumbar puncture, and the papilledema improved gradually. Conclusions: Several anecdotal cases of idiopathic intracranial hypertension secondary to hypoparathyroidism have been described. However, our case report is of particular interest, since the child did not present with typical neurological hypoparathyroidism symptoms. Therefore, we recommend that hypoparathyroidism should be included in diagnostic investigations on children with clinical findings of idiopathic intracranial hypertension, because clinical manifestations of hypoparathyroidism are variable and may involve almost all organ systems.