OpenMed/multicare-articles huggingface dataset:
Hakim-Adams Syndrome: An Unusual Cause of Reversible Postoperative Coma
Authors: Mohamed Saleh, Marine Bouex
Journal: Front Med (Lausanne) (2016)
Keywords: hakim–adams syndrome, general anesthesia, normal pressure hydrocephalus, postoperative coma, septic shock
MeSH terms: Case Reports

We report the case of a 72-year-old patient presenting in our ICU with persistent postoperative coma in a context of recent unexplored neurological dysfunction. Detailed medical history taking from the patient's family revealed he recently suffered from gait instability, urinary incontinence, and slight cognitive impairment. These constituted the clinical triad of normal pressure hydrocephalus syndrome. The presence of normal cerebrospinal fluid (CSF) pressure and distinctive radiological findings confirmed the diagnosis of normal pressure hydrocephalus or Hakims-Adams syndrome. After CSF volume subtraction (soustraction), the patient recovered a normal level of consciousness and was successfully weaned from mechanical ventilation. Normal pressure hydrocephalus should be included in the differential diagnosis of delayed postoperative arousal, especially in the elderly.
Case Report: A Chinese Family of Hypertrophic Cardiomyopathy Caused by a Novel Splicing Mutation in the FLNC Gene
Authors: Chunhui Huang, Yonghong Zheng, Wei Zhang, Zhigang Chen, Zhixin Huang, Yuan Fang
Journal: Front Genet (2022)
Keywords: flnc, cardiomyopathy, exome sequencing, hypertrophic, splicing mutation
MeSH terms: Case Reports

Hypertrophic cardiomyopathy (HCM) is a type of primary cardiomyopathy with genetic etiology, and it carries a high risk of diastolic dysfunction, heart failure, and malignant arrhythmias. We reported the first familial HCM in China, caused by a novel FLNC splicing mutation. We performed duo exome sequencing (ES) to examine the genome of the proband and his mother. For 10 days, a 15-year-old boy was presented to our hospital due to non-exercise-associated chest tightness and asthma. He was diagnosed with HCM [end-diastolic interventricular septal thickness was about 18 mm by transthoracic echocardiography (TTE)]. His mother and sister performed TTE to screen familial cardiomyopathy, which revealed hypertrophic cardiomyopathy only in the proband's mother. In ES of the mother-son duo, we identified a novel heterozygous mutation of the FLNC gene (chr7:128492808, NM_001127487, c.5905+2T>C, rs1808874360) as the candidate cause of autosomal dominant HCM. Sanger sequencing confirmed this novel mutation in the proband and his mother but absent in the proband's sister. The potential impact of the novel mutation was predicted by MutationTaster, dbscSNV_ADA_SCORE, dbscSNV_RF_SCORE, CADD_phred, PhyloP20way_mammalian, PhyloP100way_vertebrate, SiPhy_29way_logOdds, and GERP++_RS software. After the administration of furosemide, spironolactone, and metoprolol, the proband's heart function was improved, and symptoms were alleviated. We presented the first familial HCM caused by a novel FLNC splicing mutation via exome sequencing in China. Therefore, it is necessary that familial screening for patients with HCM should be performed for the early detection of HCM intervention in malignant cardiac events in advance and block genes.
The successful combination of grapefruit juice and venetoclax in an unfit acute myeloid leukemia patient with adverse risk: A case report
Authors: Zhangbiao Long, Min Ruan, Wei Wu, Qingshu Zeng, Qingsheng Li, Zhengqi Huang
Journal: Front Oncol (2022)
Keywords: aml – acute myeloid leukaemia, adverse risk, grapefruit, unfit, venetoclax
MeSH terms: Case Reports

Venetoclax combined with hypomethylating agents such as azacitidine and decitabine is the standard regime for the elderly patient with acute myeloid leukemia (AML) unfit for intensive induction therapy. However, many patients struggle with finances and forgo treatments due to the high costs of venetoclax. In this study, we performed the regime with azacitidine, low-dose venetoclax, and grapefruit juice on an unfit AML patient with TP53 mutation. The peak venetoclax concentration (Cmax) and side effects on the patient were also monitored. The patient achieved complete remission with the venetoclax Cmax within the effective concentration range (1,000-3,000 ng/ml) and maintained durable remission until recently. Febrile neutropenia, thrombocytopenia, and pneumonia appeared during the first cycle and were recovered by stimulating agents and antibiotic treatment. This improvement combination approach by drug-food interaction may enlighten other similarly patients with AML, especially those in low-middle income countries.
Case report: Complete pathological admission in N3 unresectable locally advanced lung adenocarcinoma with a novel INTS10-ALK and EML4-ALK fusion after neoadjuvant crizotinib
Authors: Xiaoqian Zhai, Ting Wang, Yiyun Lin, Jiabi Zhang, Yuqing Wang, Weiya Wang, Qinghua Zhou, Daxing Zhu
Journal: Front Oncol (2023)
Keywords: ints10-alk and eml4-alk, case report, complete pathologic response, crizotinib, lung cancer, neoadjuvant, stage iiib-n3
MeSH terms: Case Reports

Background:
Although anaplastic lymphoma kinase tyrosine kinase inhibitors (ALK-TKIs) have impressive response in advanced lung adenocarcinoma with anaplastic lymphoma kinase (ALK) fusion, no guidelines point to the potential benefits of neoadjuvant ALK-TKIs for N3 unresectable locally advanced lung cancer. Current ongoing clinical trials mainly focus on the efficacy of neoadjuvant ALK-TKIs in resectable locally advanced lung cancer and ignore the role of neoadjuvant ALK-TKIs in N3 unresectable locally advanced lung cancer.
Materials and methods:
We report a lung cancer case with a novel INTS10-ALK and EML4-ALK rearrangement that achieved complete pathologic response to neoadjuvant crizotinib. We conducted molecular pathologic analysis by using next-generation sequencing (NGS). Genomic DNA was extracted from formalin-fixed paraffin-embedded (FFPE) samples and profiled using a capture-based targeted sequencing panel consisting of 56 lung cancer-related genes.
Results:
Our study reported a patient with stage IIIB-N3 lung adenocarcinoma with an unreported dual ALK rearrangement (INTS10-ALK and EML4-ALK) who received 5 months of crizotinib, followed by R0 right upper lobectomy, achieving complete pathological response (ypT0 ypN0). No recurrence of the tumor was found for 3 years postoperatively.
Conclusion:
The case supports the strategy of neoadjuvant ALK inhibitors for N3 unresectable locally advanced lung cancer, expanding the spectrum of treatment of stage IIIB-N3 lung cancer.
Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome
Authors: Lihong Jiang, Xin Chen, Jiaqi Zheng, Meilin Wang, Hui Bo, Geli Liu
Journal: Front Pediatr (2022)
Keywords: fils syndrome, pole, dysmorphism, immunodeficiency, short stature
MeSH terms: Case Reports

Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome is a rare autosomal recessive disease. In this study we reported the first Chinese patient with FILS syndrome. The patient had short stature and suffered from recurrent respiratory infections up to the age of 4 years. Other symptoms of the disease included livedo on the inner side of upper limbs and thigh skin, prominent forehead, low anterior and posterior hairline, short and down-slanting palpebral fissure, low-set ears, long nasal tip and columella, and a small mouth with irregular teeth. A whole exome sequencing (WES) was performed and revealed two variants within the polymerase ε (POLE) gene. One of the variants was a splicing variant (c.5811 + 2T > C) derived from the mother, while the other was a nonsense variant (c.2006G > A) derived from the father. These two variants were not reported in previous FILS syndrome cases. Therefore this case provides further insight into the POLE gene variant spectrum that enriches the clinical phenotype.
A Rare Case of Metastatic Hepatocellular Carcinoma Masquerading as a Forehead Hematoma
Authors: Kimberly Sanders, Ashley Thomas, Carmen Isache, Anwer Siddiqi
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Hepatocellular carcinoma (HCC) is the most common primary liver cancer and can arise from any form of chronic liver disease or cirrhosis. With increasing rates of metabolic syndrome and obesity, it is not surprising that NASH is quickly becoming a leading cause of chronic liver disease and HCC in the western hemisphere (Wang and Malhi, 2018). Metastasis is usually found in advanced stages of the disease, owing to its poor prognosis. The lung, bone, and lymph nodes are the most frequent sites of metastasis (Balogh et al., 2016, and Becker et al., 2014). On the other hand, metastasis to the skin and cranium is relatively rare. Literature review reveals less than 10 reported cases in the last 10 years. Herein, we report an unusual case of a "forehead hematoma" leading to the formal diagnosis of metastatic HCC.
Münchausen Syndrome as an Unusual Cause of Pseudo-resistant Hypertension: A Case Report
Authors: Małgorzata Kobusiak-Prokopowicz, Anna Marciniak, Bogdan Tokarczyk, Maria Kała, Jerzy Leszek, Andrzej Mysiak
Journal: Open Med (Wars) (2019)
Keywords: iliac arteriovenous fistula, medication non-adherence, müchausen syndrome, pseudo-resistant hypertension

Münchausen syndrome can be characterized by simulated illness, pathological lying and wandering from place to place (the patient typically presents to numerous hospitals). Individuals with elevated blood pressure due to non-adherence to medication have the so-called pseudo-resistant hypertension. A 45-year-old woman was admitted to hospital on an emergency basis because of a hypertensive crisis. Despite combination antihypertensive treatment, normalization of blood pressure was not achieved and a device to produce a therapeutic arteriovenous fi stula was implanted. Aft er the procedure, a signifi cant increase in pulmonary artery pressure was observed and closure of the fistula was performed by implantation of the stent graft . The suspicion was raised that the patient had not been taking her prescribed medications. Therefore, blood samples were taken and the serum was analyzed for presence of the prescribed drugs (atorvastatin, bisoprolol, chlorthalidone, clonidine, doxazosin, furosemide, nitrendipine, oxazepam and valsartan). The results confirmed suspected failure of the patient to take the prescribed medications. Münchausen syndrome is usually first suspected when inexplicable laboratory test results are noted. To our knowledge, this is the first reported case of Münchausen syndrome with pseudo-resistant hypertension leading to the implantation of a device to produce a therapeutic arteriovenous fi stula.
Detemir plus aspart and glulisine induced lipoatrophy: 2015 literature review and report of a new case
Authors: Sima Saberi, Nazanene H Esfandiari, Mark P MacEachern, Meng H Tan
Journal: Clin Diabetes Endocrinol (2015)
Keywords: aspart, aspart plus detemir, continuous subcutaneous insulin infusion, detemir, glulisine, lipoatrophy, novomix 30

Background:
In the first and only literature review, conducted in 2009, of human insulin analog- induced lipoatrophy, there were 12 published cases, including 1 with aspart, 1 with detemir, 1 with NovoMix 30 and none with detemir plus aspart. It is perceived that insulin analog induced-lipoatrophy is increasing. We conducted a 2015 literature review of published reports of lipoatrophy induced by aspart, detemir, detemir plus aspart, and NovoMix30. We also report a new case of detemir plus aspart and glulisine induced lipoatrophy.
Methods:
Our focused literature searches (limited to 1995-2014) in PubMed, Embase, and Web of Science, using a combination of insulin analog and lipoatrophy terminology, was conducted in early January 2015.
Results:
From the 520 unique citations there were 33 (from 13 papers and 9 abstracts) lipoatrophy cases induced by detemir (n = 5), aspart (n = 21), detemir plus aspart (n = 4) and NovoMix 30 (n = 3), representing 30 new cases since 2009. Many of these reported cases were females (76 %), had type 1 diabetes mellitus (T1DM) (94 %) and were in young persons (61 %). A 41-year-old T1DM woman developed lipoatrophy on her upper thighs, arms and abdomen 14 months after injecting detemir plus aspart at the same sites. Later on, after a year on continuous subcutaneous insulin infusion (CSII) using aspart and then glulisine, she developed lipoatrophy at the infusion sites. When CSII insulin was switched to lispro she did not develop lipoatrophy after 10 months. Meanwhile, the original lipoatrophy sites significantly improved.
Conclusions:
Our literature review uncovered 30 new published cases of aspart, detemir, aspart plus detemir and NovoMix 30-induced lipoatrophy since 2009. The largest increase in cases was in aspart- induced lipoatrophy. Recent surveys showed most rapid acting insulin analog-induced lipoatrophy were associated with CSII. In our review of the reported cases, 85.7 % cases of aspart-induced lipoatrophy were associated with CSII. As in previous reports, we showed lipoatrophy was more common in females, T1DM and young persons. Our patient may be the 5th published case of detemir plus aspart-induced lipoatrophy and possibly the first case report of glulisine induced lipoatrophy. She believed both detemir plus aspart and glulisine induced the lipoatrophy.
The Use of Adenosine to Enable Safe Implantation of Transcatheter Tricuspid Valve
Authors: Vicki Zeniou, Shmuel Chen, Mony Shuvy, David Luria, Chaim Lotan, Haim D Danenberg
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

High precision is necessary during percutaneous transcatheter heart valve implantation. The precision of the implantation has been established by increasing the heart rate (usually to 200 beats per minute) to the point of significantly reduced cardiac output and thus minimizing valve movement. Routinely, this tachycardia is induced by rapid pacing. Here we report a case of failure to pace during valve-in-valve (VIV) Edwards Sapien XT implantation in the tricuspid valve position. Transient cardiac arrest was induced by intravenous adenosine injection enabling accurate valve implantation.
Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report
Authors: Jiao Liu, Xingyu Zhang, Weilan Wang, Xiaofang Lan, Minyue Dong, Kai Yan, Yongliang Lei, Penglong Chen, Mufeng Yang, Qunda Shan, Chunlei Jin
Journal: Front Genet (2021)
Keywords: abca12 gene mutation, autosomal recessive, fetus, harlequin ichthyosis, skin abnormalities
MeSH terms: Case Reports

Background:
Harlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.
Methods:
A case of HI was prenatally diagnosed by ultrasonography and genetic tests. The fetus had been found with dentofacial deformity and profound thickening of the palm and plantar soft tissues. Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were then performed on the amniotic fluid to identify germline pathogenic variants for the fetus. Candidate variants were verified by Sanger sequencing.
Results:
Compound heterozygous frameshift variants (p.Q719QfsX21; p.F2286LfsX6) of ABCA12 were identified for the fetus, suggesting the former variants were maternally inherited and the latter paternally inherited. The fetus was terminated.
Conclusion:
A prenatal molecular diagnosis is an important approach for the prevention of HI. In the study, we provided a successful case of genetic counseling for a family with an HI baby.
Sarcoidosis-Like Granulomatous Lymphadenopathy Mistaken for Neoplastic Disease on Positron Emission Tomography
Authors: Ali Ammar, Zahia Esber, Sunil Daniel Bali, Garrett Waggoner, Rumi Khan
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: pet avid, world trade center, granuloma, granulomatous lung disease, sarcoidosis
MeSH terms: Granuloma / diagnostic imaging, Lymphadenopathy / diagnostic imaging, Rescue Work, Sarcoidosis, Pulmonary / diagnostic imaging, Self Tolerance, Case Reports, Diagnosis, Differential, Dyspnea / etiology, Granuloma / complications, Humans, Lymphadenopathy / complications, Male, Middle Aged, Sarcoidosis, Pulmonary / complications, September 11 Terrorist Attacks, Unnecessary Procedures

This is a rare case of sarcoidosis-like granulomatous lymphadenopathy that was initially mistaken for a neoplastic process due to the degree of hypermetabolic changes observed on positron emission tomography (PET) scan. Sarcoid-like granulomatous pulmonary disease is a disorder that has been described in WTC (World Trade Center) Rescue Workers, and also known as post 9/11 sarcoidosis. We present an interesting case of a man who presented with several months of progressive dyspnea and was later discovered to have significant bilateral hilar adenopathy, which was PET avid. Even more interesting, this patient's symptoms completely resolved without the use of systemic steroids or immune suppressants. This is a condition that requires awareness in order to avoid repeating unnecessary tests of performing interventions on a benign condition that may resolve on its own.
Proliferative glomerulonephritis with monoclonal immunoglobulin G3 lambda deposits accompanied by glomerular positive staining for nephritis-associated plasmin receptor and related plasmin activity: A report of two cases
Authors: Takahiro Uchida, Takashi Oda, Takahiko Hoshino, Takashi Sakai, Aki Kojima, Dan Inoue, Tadasu Kojima, Muneharu Yamada
Journal: Front Med (Lausanne) (2023)
Keywords: infection-related glomerulonephritis, nephritis-associated plasmin receptor, nephrotic syndrome, plasmin, proliferative glomerulonephritis with monoclonal immunoglobulin g deposits
MeSH terms: Case Reports

Proliferative glomerulonephritis with monoclonal immunoglobulin (Ig) G deposits (PGNMID) is a relatively uncommon entity of monoclonal gammopathy of renal significance, and its detailed pathogenesis is not well understood. We, herein, report two cases of patients with PGNMID; their renal biopsy showed glomerular histological features of membranoproliferative glomerulonephritis pattern with endocapillary proliferation accompanied by non-organized granular electron-dense deposits that consisted of monoclonal IgG3-lambda. Neither symptomatic episodes of preceding infection nor infection foci were found in both patients; however, glomerular positive staining for nephritis-associated plasmin receptor (NAPlr) and related plasmin activity were observed. Although NAPlr was originally considered as a candidate nephritogenic protein for post-streptococcal acute glomerulonephritis, its positive staining and related plasmin activity have been observed in glomeruli of various cases with bacterial infection-related glomerulonephritis and is considered to be a general histological biomarker of infection-related glomerulonephritis. The present cases suggest that evaluation of immunoreactivity for NAPlr and related plasmin activity in glomeruli provides an important clue regarding the infection-related pathogenesis of PGNMID.
A Novel Cause of Bowel Obstruction in a Patient with Long-Standing Crohn's Disease
Authors: Satya V Vedula, T Paul Nickerson, Douglas J Grider
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Solitary fibrous tumors are rare tumors of mesenchymal origin. Although most often observed in the lung pleura, they have been reported in varied extrapleural sites. A 70-year-old male with complicated Crohn's disease presented with 3 days of nausea, emesis, constipation, and abdominal pain. Computed Tomography (CT) demonstrated mucosal thickening of the middescending colon, consistent with fibrosing stricture. Surgical excision revealed an unusual, 5 cm mass originating in the subserosa. Histopathology of the lesion was notable for a proliferation of cells with spindle and stellate-shaped nuclei and no appreciable mitotic figures, which extended into the muscularis and submucosa. Immunohistochemistry was STAT6 nuclear positive and cytoplasmic CD34 positive, diagnostic for solitary fibrous tumor (SFT). In this case, the SFT infiltrating into the muscularis propria and subserosa caused the stricture and bowel obstruction. This illustrates that while fibrosing strictures are usually the etiology of bowel obstruction in the setting of Crohn's disease, other rare possible causes should be considered.
Case series of mycobacterium abscessus infections associated with a trigger point injection and epidural block at a rural clinic
Authors: Jun Young Song, Jung Bin Son, Min Ki Lee, Jin Gwack, Kil Soo Lee, Ji Young Park
Journal: Epidemiol Health (2012)
Keywords: epidural block, mycobacterium abscessus, outbreak, trigger point injection

Objectives:
The aim of this report is to investigate Mycobacterium abscessus infections at a rural clinic and carry out a surveillance program to determine the extent and source of these infections.
Methods:
The authors conducted an active surveillance investigation of 36 patients who had visited the clinic since 1 July 2008. Clinical specimens were collected from the patients and an envirnmental investigation. Pulsed-field gel elctrophoresis (PFGE) was performed for comparing with M. abscessus isolates from the patients.
Results:
Six specimens were obtained from the 6 patients respectively and 22 environmental samples were obtained. M. abscessus was isolated from the wounds of two patients, and various nosocomial pathogens, but not M. abscessus, were isolated from the surrounding environment. Two strains of M. abscessus from patients were identical as a result of PFGE.
Conclusion:
Infection control education including proper hand hygiene should be emphasized for physicians performing invasive procedures. There also needs to be more attention for invasive procedures management, including trigger point injection and epidural block in rural clinics.
Severely Disseminated Kaposi Sarcoma after ABO-Incompatible Kidney Transplantation Treated Successfully with Paclitaxel and Gemcitabine Combined with Hemodialysis
Authors: Tobias Bomholt, Anders Krarup-Hansen, Martin Egfjord, Søren Schwartz Sørensen, Niels Junker
Journal: Case Rep Transplant (2019)
MeSH terms: Case Reports

Kaposi Sarcoma (KS) is driven by human herpes virus 8 causing vascular proliferation which is induced by loss of immune function most often due to HIV or immunosuppressants. KS occurs with increased incidence in kidney transplant recipients, but rarely is disseminated. We report a 64-year-old male who developed severely disseminated KS 5 months after ABO-incompatible kidney-transplantation. No guidelines for chemotherapy exist in this case and reduced kidney function and impaired immune system complicates the use of systemic chemotherapy in kidney transplant recipients. A combination of paclitaxel and gemcitabine followed by two days of hemodialysis treatment was chosen since paclitaxel can be given in full dose independently of kidney function and gemcitabine is metabolised to 2',2'-difluorodeoxyuridine which is found to be highly dialysable. The present treatment was well tolerated by the patient with one episode of leukopenia and elevated alanine transaminase during treatment which resolved. There were no serious adverse events and the patient obtained a complete remission verified by Positron Emission Tomography CT after ending chemotherapy and at one-year follow up.