OpenMed/multicare-articles huggingface dataset:
Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
Authors: Shan-Shan Zhang, Li-Niu Gu, Teng Zhang, Lu Xu, Xiang Wei, Su-Hong Chen, Su-Jie Shi, Da-Quan Sun, Shao-Hong Zhou, Qian-Ye Zhao
Journal: Front Pediatr (2023)
Keywords: cryab, fatal infantile hypertonic myofibrillar myopathy, gene, mutation, whole exome sequencing
MeSH terms: Case Reports

Background:
Fatal infantile hypertonic myofibrillar myopathy (FIHMM) is an autosomal recessive hereditary disease characterized by amyotrophy, progressive flexion contracture and ankylosis of the trunk and limb muscles, apnea and respiratory failure, and increased creatine phosphate levels. It is caused by mutations in the CRYAB gene, and only around 18 cases including genetic mutations have been reported worldwide. All patients with FIHMM develop respiratory distress, progressive stiffness of the limbs, and have a poor prognosis. However, no effective treatment for CRYAB-associated respiratory failure has been reported. Here, we report a case of FIHMM with a novel heterozygous missense mutation.
Case presentation:
A 2-year-old female developed scoliosis of the lumbar spine and restrictive ventilatory dysfunction in infancy. She was admitted to the hospital with labored breathing on the third day after the second injection of inactivated poliomyelitis vaccine. Acute respiratory failure, pneumothorax, and cardiac arrest arose in the patient during hospitalization, and progressive stiffness of the trunk and limb muscles appeared, accompanied by obvious abdominal distension and an increase in phosphocreatine kinase levels. Screenings for genetic metabolic diseases in the blood and urine were normal. Electromyography revealed mild myogenic damage. A muscle biopsy indicated the accumulation of desmin, α-crystallin, and myotilin in the musculus biceps brachii, and dense granules were observed in muscle fibers using electron microscopy. Mutation analysis of CRYAB revealed a novel heterozygous missense mutation in the proband, c.302A > C (p.His101Pro) and c.3G > A (p.Met1Ile), which inherited from her asymptomatic, heterozygous carrier parents, respectively. The proband was finally diagnosed as FIHMM. One month after the FIHMM diagnosis, the child died of respiratory failure.
Conclusion:
We report a case of FIHMM with a novel heterozygous missense mutation of CRYAB. This finding might improve our understanding of FIHMM and highlight a novel mutation in the Chinese population.
Can Cell Bound Complement Activation Products Predict Inherited Complement Deficiency in Systemic Lupus Erythematosus?
Authors: Naveen Raj, Barry Waters
Journal: Case Rep Rheumatol (2016)
MeSH terms: Case Reports

Activation of the classical pathway complement system has long been implicated in stimulating immune complex mediated tissue destruction in systemic lupus erythematosus (SLE). C3 and C4 complement levels are utilized as part of SLE diagnosis and monitoring criteria. Recently, cell bound complement activation products (CBCAPs) have shown increased sensitivity in diagnosing and monitoring lupus activity, compared to traditional markers. CBCAPs are increasingly utilized in rheumatology practice as additional serological markers in evaluating SLE patients. We report a case of a patient diagnosed with SLE that had chronically low C3 and C4, along with negative CBCAPs. We surmise that the patient has an inherited complement deficiency as the etiology of her SLE and that CBCAPs could be used to predict such deficiency.
Colorectal neuroendocrine tumors: A case series
Authors: Warsinggih, Liliyanto, Prihantono, Gusti Deasy Wilda Ariani, Muhammad Faruk
Journal: Int J Surg Case Rep (2020)
Keywords: case series, colorectal cancer, large bowel obstruction, neuroendocrine tumor, peritonitis

Introduction:
Neuroendocrine tumors (NET) of the colon and sigmoid colon are uncommon compared to colorectal adenocarcinoma. Few reports have been made of NET of the colon and sigmoid colon that presents with peritonitis and large bowel obstruction.
Case presentation:
Here, we report two cases of NET of the colon and sigmoid colon, which were diagnosed and treated at our institution. In our first case, a 66-year-old man with a history of abdominal distension was diagnosed with NET via histopathology of the sigmoid colon. The second case involved a 45-year-old woman with the chief complaints of abdominal distention and inability to defecate; specimen histopathology of the descending colon showed neuroendocrine carcinoma features. Clinical outcome was very poor in our patients: eight months after the resection, the second patient demonstrated a sign of metastasis on the liver.
Conclusion:
An uncommon case of colon and sigmoid colon carcinoma with neuroendocrine and diagnostic difficulties precludes an exact description of the initial diagnostic criteria and management. Thus, our case series offers an overview of initial symptoms, radiological and histopathological features for early diagnosis, and proper management of NET.
The Current Status of the Ketogenic Diet in Psychiatry
Authors: Emmanuelle C S Bostock, Kenneth C Kirkby, Bruce V M Taylor
Journal: Front Psychiatry (2017)
Keywords: epilepsy, ketogenic diet, ketones, mental disorders, psychiatry
MeSH terms: Review

Background:
The ketogenic diet (KD) has been used in treatment-resistant epilepsy since the 1920s. It has been researched in a variety of neurological conditions in both animal models and human trials. The aim of this review is to clarify the potential role of KD in psychiatry.
Methods:
Narrative review of electronic databases PubMED, PsychINFO, and Scopus.
Results:
The search yielded 15 studies that related the use of KD in mental disorders including anxiety, depression, bipolar disorder, schizophrenia, autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD). These studies comprised nine animal models, four case studies, and two open-label studies in humans. In anxiety, exogenous ketone supplementation reduced anxiety-related behaviors in a rat model. In depression, KD significantly reduced depression-like behaviors in rat and mice models in two controlled studies. In bipolar disorder, one case study reported a reduction in symptomatology, while a second case study reported no improvement. In schizophrenia, an open-label study in female patients (n = 10) reported reduced symptoms after 2 weeks of KD, a single case study reported no improvement. In a brief report, 3 weeks of KD in a mouse model normalized pathological behaviors. In ASD, an open-label study in children (n = 30) reported no significant improvement; one case study reported a pronounced and sustained response to KD. In ASD, in four controlled animal studies, KD significantly reduced ASD-related behaviors in mice and rats. In ADHD, in one controlled trial of KD in dogs with comorbid epilepsy, both conditions significantly improved.
Conclusion:
Despite its long history in neurology, the role of KD in mental disorders is unclear. Half of the published studies are based on animal models of mental disorders with limited generalizability to the analog conditions in humans. The review lists some major limitations including the lack of measuring ketone levels in four studies and the issue of compliance to the rigid diet in humans. Currently, there is insufficient evidence for the use of KD in mental disorders, and it is not a recommended treatment option. Future research should include long-term, prospective, randomized, placebo-controlled crossover dietary trials to examine the effect of KD in various mental disorders.
Intracardiac Thrombosis during Adult Liver Transplantation
Authors: Marina Moguilevitch, Carlene Broderick
Journal: Case Rep Transplant (2013)

Intracardiac thrombosis (ICT) and pulmonary embolism (PE) during adult liver transplantation are rare but potentially lethal complications. They are often overlooked because of significant diagnostic challenges. The combination of hemodynamic compromise and transesophageal echocardiography (TEE) findings allows for correct diagnosis. A large variety of putative risk factors for ICT and PE have been suggested, but these events are considered to be multifactorial. There are different proposed treatment modalities for these devastating complications. Unfortunately, in spite of growing knowledge in this area, intraoperative and postoperative mortalities remain very high. The retrospective nature of the study of these events makes the case reports extremely valuable.
Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep
Authors: Xiaorui Liu, Lingling Xie, Zhixu Fang, Li Jiang
Journal: Front Neurol (2022)
Keywords: christianson syndrome, slc9a6, electrical status epilepticus during sleep, reverse transcription-polymerase chain reaction, splicing mutation
MeSH terms: Case Reports

We investigated the existence and potential pathogenicity of a SLC9A6 splicing variant in a Chinese boy with Christianson Syndrome (CS), which was reported for the first time in China. Trio whole-exome sequencing (WES) was performed in the proband and his parents. Multiple computer prediction tools were used to evaluate the pathogenicity of the variant, and reverse transcription-polymerase chain reaction (RT-PCR) analysis and cDNA sequencing were performed to verify the RNA splicing results. The patient presented with characteristic features of CS: global developmental delay, seizures, absent speech, truncal ataxia, microcephaly, ophthalmoplegia, smiling face and hyperkinesis with electrical status epilepticus during sleep (ESES) detected in an electroencephalogram (EEG). A SLC9A6 splicing variant was identified by WES and complete skipping of exon 10 was confirmed by RT-PCR. This resulted in altered gene function and was predicted to be pathogenic. ESES observed early in the disease course is considered to be a significant feature of CS with the SLC9A6 variant. Combined genetic analysis at both the DNA and RNA levels is necessary to confirm the pathogenicity of this variant and its role in the clinical diagnosis of CS.
A case of synchronous advanced gastric cancer and locally advanced prostate cancer with combined laparoscopic and robotic surgery: A case report
Authors: Toru Imagami, Satoru Takayama, Taku Hattori, Ryohei Matsui, Masaki Sakamoto, Hisanori Kani, Satoshi Kurokawa, Tsuyoshi Fujiwara
Journal: Int J Surg Case Rep (2019)
Keywords: case report, combined laparoscopic surgery, gastric cancer, multidisciplinary treatment for synchronous cancer, synchronous cancer

Introduction:
The optimal management strategy for synchronous gastric cancer (GC) and prostate cancer (PCa) remains unclear, particularly in cases in which two cancers are progressive.
Presentation of case:
A 68-year-old man diagnosed with synchronous advanced GC and locally advanced PCa was referred to our institution. Laparoscopic total gastrectomy (LTG) and robotic-assisted radical prostatectomy were simultaneously performed. The postoperative course was similar to the standard postoperative course of LTG alone. Pathological diagnoses were T3N3aM0 gastric adenocarcinoma and T3N0M0 prostatic adenocarcinoma. Adjuvant chemotherapy and adjuvant androgen deprivation therapy (ADT) for GC and PCa were initiated on postoperative days 15 and 27, respectively. Six months subsequent to surgery, the patient received adjuvant chemotherapy and ADT, and no evidence of cancer recurrence was observed.
Discussion:
In terms of survival, curative resection with adjuvant therapy is advantageous for patients with advanced GC or locally advanced PCa. At present, treatment for synchronous cancer should be combined with optimal management for individual cancers. Minimally invasive surgery may play an important role in the multidisciplinary treatment of synchronous advanced cancer.
Conclusion:
Combined laparoscopic and robotic surgery for synchronous GC and PCa allows for minimally invasive radical resection and appropriate adjuvant therapy.
Case Report: Two Cases of Chemotherapy Refractory Metastatic Penile Squamous Cell Carcinoma With Extreme Durable Response to Pembrolizumab
Authors: Jad Chahoud, William Paul Skelton 4th, Philippe E Spiess, Christine Walko, Jasreman Dhillon, Kenneth L Gage, Peter A S Johnstone, Rohit K Jain
Journal: Front Oncol (2020)
Keywords: durable response, immunotherapy, metastatic, pembrolizumab, penile cancer
MeSH terms: Case Reports

Background:
Penile squamous cell carcinoma (PSCC) is a rare malignancy, and those patients with metastatic disease have limited treatment options. Treatment is largely comprised of platinum-based chemotherapy; however, patients progressing after initial chemotherapy have a median overall survival (OS) of less than 6 months. Based on a high percentage of PD-L1 expression in patients with PSCC, and its biological similarities to other squamous cell carcinomas, we present two patient cases treated with pembrolizumab with extraordinary durable treatment response far beyond treatment with standard therapy.
Main body:
The first patient is a 64 year old male with PSCC who was treated with neoadjuvant chemotherapy, partial penectomy, and adjuvant radiation prior to developing metastatic disease. He had a high TMB (14 mutations/Mb) and was started on pembrolizumab with a complete response, which has been maintained for 38 months. The second patient is an 85 year old male with PSCC who was treated with partial penectomy and adjuvant chemotherapy and radiation prior to developing metastatic disease. He had positive PD-L1 expression CPS 130) and was started on pembrolizumab with a partial response, which has been maintained for 18 months after starting treatment.
Conclusions:
These two cases of extreme durable response with pembrolizumab (with molecular data including TMB and PD-L1 status) represent a significant clinical benefit in this patient population. With limited treatment options that result in a median OS of less than 6 months, along with the toxicity profile of chemotherapy which may not be tolerated in elderly patients with comorbidities, this survival benefit with pembrolizumab, along with advances in tumor sequencing and clinical trials shows that there is a potentially significant benefit with novel therapies in this patient population.
Tenosynovial giant cell tumour of the finger: a case report
Authors: Ankit Jaiswal, Ratnakar Ambade
Journal: Pan Afr Med J (2023)
Keywords: giant cell tumour, bone tumour, case report, orthoplasty, resection
MeSH terms: Giant Cell Tumor of Tendon Sheath / diagnosis, Giant Cell Tumor of Tendon Sheath / pathology, Giant Cell Tumor of Tendon Sheath / surgery, Giant Cell Tumors / diagnosis, Giant Cell Tumors / pathology, Giant Cell Tumors / surgery, Case Reports, Adult, Female, Fingers, Hand / pathology, Humans, Pain

Giant cell tumour most commonly occuring in epiphysis of the long bone, present and with pain, tenderness and swelling. It is a solitary lesion with restricted movement and tenderness over the lesion. The tendon sheath is where tenosynovial giant cell tumours typically develop. Because of its remarkably peculiar position, we present a case of giant cell tumour (GCT) tenosynovial of bone in the middle phalaynx in a 33-year-old female with complaints of swelling, pain in ring finger of left hand since 2 months which is rarely seen. After clinical, radiological, pathological investigations tenosynovial giant cell tumour was diagnosed. Following fine needle aspiration cytology, histopathology was utilized to confirm the tumour's diagnosis which was later treated as resection of excision of the tumour with allo/autograft reconstruction. Our case report showed no evidence of recurrence in 2 years of follow-up. Hence our case report proves that early and complete resection of the tumour shows evidence of regain of complete range of motion and decrease recurrence rate.
A rare case of effusive constrictive cholesterol pericarditis: a case report and review
Authors: Van W Adamson, Jennifer N Slim, Kenneth M Leclerc, Ahmad M Slim
Journal: Case Rep Med (2013)

Effusive constrictive cholesterol pericarditis is exceedingly rare. Most cases have an unclear etiology but can be associated with rheumatoid arthritis, tuberculosis infection, and hypothyroidism. The hallmark of the effusion is the distinctively high levels of cholesterol. We present the case of a 68-year-old male with prolonged symptoms of dyspnea with associated moderate pericardial effusion that were later determined to be constrictive effusive etiology, and the patient was referred for stripping with pathologic cholesterol crystal formation on pathology review.
Pancreatic carcinosarcoma with rare long-term survival: Case report and review of the literature
Authors: Zhe Jia, Ke Zhang, RongHai Huang, XinGang Zhou, Li Jiang
Journal: Medicine (Baltimore) (2017)
MeSH terms: Carcinosarcoma / pathology, Pancreas / pathology, Pancreatic Neoplasms / pathology, Case Reports, Review, Adult, Carcinosarcoma / therapy, Female, Humans, Pancreatic Neoplasms / therapy

Patient concerns:
We report a rare case of pancreatic carcinosarcoma involving a 44-year-old woman. The patient complained of discomfort associated with the upper abdomen and jaundice of skin and sclera for 1 week.
Diagnoses:
After hospitalization, relevant examinations were completed. The disease was diagnosed as carcinoma of the pancreatic head.
Interventions:
Whipple procedure was conducted in May 2013. Intraoperative exploration indicated 2 components of the tumor: a fish-shaped gray matter and a hard structure similar to cancellous bone. Histopathological examination showed adenocarcinoma and osteosarcoma. After surgery, the patient received 8 cycles of chemotherapy with gemcitabine and raltitrexed.
Outcomes:
Previous studies indicated poor prognosis for pancreatic carcinosarcoma. However, our patient survived for 31 months with no recurrence till date.
Lessons subsections:
Coexistence of pancreatic adenocarcinoma and osteosarcoma is very rare. Our case was also an exception in manifesting longer survival than expected.
The First Case of Native Mitral Valve Endocarditis due to Micrococcus luteus and Review of the Literature
Authors: Alisha Khan, Thu Thu Aung, Debanik Chaudhuri
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Gram-positive cocci species, notably Staphylococcus, Streptococcus, and Enterococcus account for 80 to 90% of infective endocarditis cases. HACEK microorganisms (Haemophilus spp., Aggregatibacter actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae) account for approximately 3% of cases and Candida species account for 1-2% of cases. Micrococcus luteus is a rare cause of endocarditis. To our knowledge, only 17 cases of prosthetic valve endocarditis have been described due to M. luteus and a single case of native aortic valve endocarditis has been described. The following case is the only documented case of native mitral valve endocarditis. A review of the literature pertaining to Micrococcus endocarditis was performed to further characterize the entity.
An unusual transudative pleural effusion succeeded by pulmonary and brain edema and death
Authors: Sayyed Gholam Reza Mortazavimoghaddam, H R Riasi
Journal: Case Rep Pulmonol (2012)
MeSH terms: Case Reports

Here we report a 22-year old woman with massive and bilateral transudative effusion succeeded by pulmonary edema and brain edema and death. Investigations for systemic disorders were negative. Exacerbation of dyspnea after intravenous fluid infusion was a main problem. As effusion was refractory to medical treatment, the patient was referred for surgical pleurodesis and bilateral surgical pleurodesis were done separately. Postsurgically, dyspnea exacerbation occurred after each common cold infection. Vertigo and high intracranial pressure were also a problem postsurgically. CSF pressure was 225 mm/H(2)O. Therapeutic lumbar puncture was done in two sequential weeks, and the patient was on acetazolamide 250 mg/trivise a day. Despite the medical treatment, progressive dyspnea, headache, and high intracranial pressure followed by death nine months after pleurodesis. As there is a gradient of pressure between pleura and CSF, after pleurodesis brain edema must be a consequence of inversing this gradient. In conclusion, when there are any abnormalities about fluid volume or pressure in any of these cavities, we have to study other cavities.
Sociocultural factors and perceptions associated with voluntary and permanent relocation of flood victims: A case study of Sekondi-Takoradi Metropolis in Ghana
Authors: Isaac Y Addo, Samuel Y Danso
Journal: Jamba (2017)

Flooding is a major problem in many developing urban centres in Ghana, including the Sekondi-Takoradi Metropolis (STM). Residents who are living close to the Anankwari, Kansawura and Whin rivers in the metropolis often experience flooding when the rivers overflow their banks, resulting in lives being lost, people being displaced and properties being destroyed. One durable solution to the flooding problem is voluntary and permanent relocation of 'vulnerable' residents; but this form of solution cannot be achieved without a clear understanding of the sociocultural factors that influence the decision-making process. This study uniquely investigated the sociocultural and economic factors affecting voluntary and permanent relocation of flood victims, using Eshiem, Kansawurodo and Whindo communities as a case study. Employing a mixed cross-sectional design method, 207 heads of households were selected to fill in questionnaires; interviews were conducted with nine representatives of the traditional councils, and areas affected by flooding were photographed. The findings show that voluntary and permanent relocation was overlooked by most flood victims due to perceived inability to rent new places owing to low incomes, fear of losing income-generating ventures that serve as sources of livelihoods, hope of gaining income from the oil production within the region and the need for restitution from government before evacuation. From a sociocultural viewpoint, they felt uncomfortable with losing ancestral lands and landed properties as well as breaking long-standing ties with their community folks and other networks. Flood victims' willingness to stay in the flood-prone communities was also influenced by duration of stay in the communities and ownership of landed assets. When considering voluntary and permanent relocation of flood victims as a durable solution in the future, these sociocultural and economic factors need to be carefully considered.
A Rare Case of Pylephlebitis as a Complication of Cholecystocolonic Fistula
Authors: Kouki Imaoka, Saburo Fukuda, Hirofumi Tazawa, Sotaro Fukuhara, Yuzo Hirata, Seiji Fujisaki, Mamoru Takahashi, Hideto Sakimoto
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Pylephlebitis is defined as a septic thrombophlebitis of the portal vein and its tributaries that is associated with multiple suppurative abdominal infections. We report a case of pylephlebitis associated with a cholecystocolonic fistula (CCF). A 41-year-old man presented with upper abdominal pain and anorexia for 1 month. Abdominal contrast-enhanced computed tomography (CT) revealed thrombosis in the left and anterior branch of the portal vein and thickening of the walls of the portal vein and periside portals. The gallbladder was collapsed and pneumobilia was seen in the biliary tract. Blood culture was positive for Streptococcus anginosus. A diagnosis of thrombophlebitis of the portal vein associated with CCF was made, and the patient was immediately managed with an intravenous broad-spectrum antibiotic and anticoagulation. After the portal vein thrombosis (PVT) propagation and inflammation had subsided, cholecystectomy and partial resection of the transverse colon were performed. Pylephlebitis is rare but is a life-threatening complication of intra-abdominal infection. A high index of suspicion is required, and a CT scan should be performed immediately for an early diagnosis and appropriate treatment.