OpenMed/multicare-articles huggingface dataset:
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome
Authors: Shadab Salehpour, Feyzollah Hashemi-Gorji, Ziba Soltani, Soudeh Ghafouri-Fard, Mohammad Miryounesi
Journal: Iran J Child Neurol (2017)
Keywords: goldberg-shprintzen syndrome, kiaa1279, mutation
MeSH terms: Case Reports

Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures. Whole exome sequencing in the patient revealed a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_015634:exon6:c.C976T:p.Q326X). Considering the wide range of phenotypic variations in GOSHS, relying on phenotypic characteristics for discrimination of GOSH from similar syndromes may lead to misdiagnosis. Consequently, molecular diagnostic tools would help in accurate diagnosis of such overlapping phenotypes.
Appendicoumbilical fistula: a rare reason for neonatal umbilical mass
Authors: M Cevik, M E Boleken, E Kadıoglu
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

The normal umbilicus is a simple structure, but the intrauterine development of the umbilicus is highly complex. Neonatal umbilical mass anomalies usually represent failure of obliteration of the vitelline duct or the allantois which results in persistence of remnants, which can lead to a wide variety of disorders. In this paper, we present a case of an appendicoumbilical fistula in a neonate along with the differential diagnosis and management options. Embryologic explanation of the etiology was discussed with the possible association with different forms of malpositioning and rotation of the gut.
The Influence of Neocate in Paediatric Short Bowel Syndrome on PN Weaning
Authors: E De Greef, T Mahler, A Janssen, H Cuypers, G Veereman-Wauters
Journal: J Nutr Metab (2010)
MeSH terms: Case Reports

Clinical management of short bowel syndrome remains a multistage process. Although PN is crucial, early introduction of enteral feeding is mandatory. We describe retrospectively 4 patients with an ultrashort bowel who could be weaned off PN on very short terms after introduction of an amino-acid-based formula (Neocate). Patient 1 had congenital short bowel with 50 cm small bowel and 30 cm colon. He had persistent diarrhoea on a semielementary formula. When Neocate was introduced he could be weaned from PN within 6 months. Patient 2 needed multiple surgical interventions because of NEC at D 27. He maintained 40 cm small bowel and an intact colon and remained PN dependent on semielemental formula. After introducing Neocate, PN could be weaned within 3 months. In the next 2 patients, Neocate was introduced as initial enteral feeding after bowel resection following antenatal midgut volvulus. Patient 3 had 20 cm small bowel and an intact colon. PN was weaned after 2 months. Patient 4 had 9 cm small bowel and an intact colon. PN was weaned after 13 months. In all patients Ileocaecal valve (ICV) was preserved. No consensus is reached on the type of formula to use for short bowel syndrome. Compared to recent data in the literature, the weaning period in these 4 patients was significantly shortened on an aminoacid based formula. The reason for this may lie in the antiallergic properties of this formula. We recommend the use of an amino-acid-based formula to induce earlier weaning of PN.
Case report: Endovascular treatment of two scalp arteriovenous malformation cases via direct percutaneous catheterization: A case series
Authors: Yuan Shi, Peixi Liu, Yingtao Liu, Kai Quan, Peiliang Li, Zongze Li, Wei Zhu, Yanlong Tian
Journal: Front Neurol (2022)
Keywords: case report, direct percutaneous puncture, endovascular embolization, scalp arteriovenous fistula, scalp arteriovenous malformation
MeSH terms: Case Reports

Background:
Scalp arteriovenous malformations (AVM) are rare vascular malformations reported only in small case series. Scalp AVMs usually present with symptoms, including headache, tinnitus, epilepsy, cerebral ischemia, and necrosis of the scalp, which can cause functional, cosmetic, and psychological problems. There are many difficulties in the treatment of scalp AVM because of its complex characteristics of vascular anatomy, non-uniform structure, and intracranial-extracranial anastomosis.
Case description:
To illustrate the endovascular treatment of scalp AVM via direct percutaneous puncture while traditional arterial and venous approaches were not available. In this report, access was obtained through a direct puncture of the enlarged frontal vein. Onyx-18 was injected through a microcatheter to occlude draining veins, fistulous connection, and the feeders. An 18-gauge indwelling needle was inserted into draining veins directly. Postembolization angiography demonstrated complete sAVM occlusion immediately and no non-targeted embolization. At a 1-year follow-up, no procedure-related complications and evidence of recurrence were observed.
Conclusion:
The technique of endovascular embolization via direct percutaneous puncture approach is safe, rapid, and effective for specific sAVM. Treatment options should be made in terms of size, vascular anatomical characteristics of the lesions, patient's preference, cosmetic factors, and available expertise.
Acute circulatory deficiency due to endocrinal tumoral manipulation: the pinealoblastoma
Authors: Chemchihik Heithem, Ghazi Issaoui, Mejdi Khadraoui, Mohamed Ladib, Walid Naija, Rachid Said
Journal: Pan Afr Med J (2014)
Keywords: pinealoblastoma, vp shunt, circulatory deficiency, metastasis, serotonin
MeSH terms: Brain Neoplasms / pathology, Pineal Gland / pathology, Pinealoma / pathology, Serotonin / metabolism, Case Reports, Abdominal Neoplasms / secondary, Adolescent, Female, Humans, Hydrocephalus / etiology, Hydrocephalus / surgery, Neoplasm Metastasis, Ventriculoperitoneal Shunt / methods, Serotonin

We rapport the case of a patient presenting intra-abdominal metastasis of a pinealoblastoma, via a ventriculo-peritoneal shunt, confirmed by an anatomo-pathologic exam. The patient presented an acute hydrocephalus secondary to DVP dysfunction. The surgical manipulation of this metastasis had caused an acute circulatory deficiency due to massive serotonin release. In this case we analyze pineal gland physiology and serotonin effect on different systems.
Malignant intracerebral nerve sheath tumors: a case report with review of the literature
Authors: Faris Shweikeh, Doniel Drazin, Sergei I Bannykh
Journal: Case Rep Surg (2013)

The occurrence of benign nerve sheath tumors within the neuroaxis is uncommon. Even rarer is the finding within brain parenchyma, termed malignant intracerebral nerve sheath tumors (MINST). We present a case of MINST which occurred in the frontal lobe of an 18-year-old male that recurred almost 4 years later. Imaging demonstrated a 4.0 cm lesion with an associated mass effect. He underwent a right fronto-parietal craniotomy for gross total resection. Pathology was inconclusive with a Glioblastoma Multiforme (GBM) as the most likely diagnosis, though gliosarcoma and MINST were also highly considered. Postoperatively, he was treated with chemotherapy and radiation and followed for almost 4 years, when an MRI indicated a recurrence. Resection of the recurrence was highly suggestive of MINST. Surgery was followed by radiation and chemotherapy, but, less than 7 months later, he was readmitted for a surgical-site infection, and, after multiple surgeries, and his family terminated care. Recognizing this unusual tumor in the differential diagnosis of a heterogeneously enhancing intracerebral mass can help surgeons diagnose and treat it. This report also exhaustively reviews the literature and presents diagnostic and treatment strategies.
Novel genomic islands and a new vanD-subtype in the first sporadic VanD-type vancomycin resistant enterococci in Norway
Authors: Mushtaq T S Al Rubaye, Jessin Janice, Jørgen Vildershøj Bjørnholt, Aleksandra Jakovljev, Maria Elisabeth Hultström, Arnfinn Sundsfjord, Kristin Hegstad
Journal: PLoS One (2021)
MeSH terms: Bacterial Proteins / genetics, Enterococcus / genetics, Enterococcus faecium / genetics, Genomic Islands, Gram-Positive Bacterial Infections / microbiology, Peptide Synthases / genetics, Vancomycin Resistance, Case Reports, Research Support, Non-U.S. Gov't, Aged, Anti-Bacterial Agents / pharmacology, Enterococcus / drug effects, Enterococcus / pathogenicity, Enterococcus faecium / drug effects, Enterococcus faecium / pathogenicity, Female, Gram-Positive Bacterial Infections / pathology, Humans, Middle Aged, Vancomycin / pharmacology, Anti-Bacterial Agents, Bacterial Proteins, Vancomycin, Peptide Synthases, VanD protein, Enterococcus faecium, Enterococcus casseliflavus

Background:
Vancomycin-resistant enterococci (VRE) represent several types of transferable vancomycin resistance gene clusters. The vanD type, associated with moderate to high level vancomycin resistance, has only sporadically been described in clinical isolates. The aim of this study was to perform a genetic characterization of the first VanD-type VRE strains detected in Norway.
Methods:
The VanD-type VRE-strains (n = 6) from two patient cases were examined by antimicrobial susceptibility testing and whole genome sequencing (WGS) to uncover Van-phenotype, strain phylogeny, the vanD gene clusters, and their genetic surroundings. The putative transferability of vanD was examined by circularization PCR and filter mating.
Results:
The VanD-type Enterococcus faecium (n = 4) and Enterococcus casseliflavus (n = 2) strains recovered from two cases (A and B), expressed moderate to high level vancomycin resistance (MIC 64->256 mg/L) and various levels of teicoplanin susceptibility (MIC 2->256 mg/L). WGS analyses revealed phylogenetically different E. faecium strains (A1, A2, and A3 of case A and B1 from case B) as well as vanD gene clusters located on different novel genomic islands (GIs). The E. casseliflavus strains (B2 and B3 of case B) were not clonally related, but harbored nearly identical novel GIs. The vanD cluster of case B strains represents a novel vanD-subtype. All the vanD-GIs were integrated at the same chromosomal site and contained genes consistent with a Clostridiales origin. Circular forms of the vanD-GIs were detected in all strains except B1. Transfer of vanD to an E. faecium recipient was unsuccessful.
Conclusions:
We describe the first VanD-type E. casseliflavus strains, a novel vanD-subtype, and three novel vanD-GIs with a genetic content consistent with a Clostridiales order origin. Despite temporal occurrence, case A and B E. faecium strains were phylogenetically diverse and harbored different vanD subtypes and vanD-GIs.
Case Report: Comparison of Plasma Metagenomics to Bacterial PCR in a Case of Prosthetic Valve Endocarditis
Authors: Joshua A Lieberman, Caitlin Naureckas Li, Gabriella S Lamb, David A Kane, Mary K Stewart, Ruslan A Mamedov, Brad T Cookson, Stephen J Salipante
Journal: Front Pediatr (2021)
Keywords: 22q11 deletion syndrome, broad-range 16s rdna pcr, cell free dna (cfdna), endocarditis (all infectious agents), metagenomics, next-generating sequencing
MeSH terms: Case Reports

Molecular assays for infectious diseases have emerged as important clinical decision-making tools. Unbiased, metagenomic next-generation sequencing is a novel approach holding promise to detect pathogens missed by conventional modalities and to deconvolute admixed nucleic acid sequences from polymicrobial infections in order to identify constituent pathogens. Recent studies have raised concerns about the clinical impact of metagenomics assays and whether their expense is justified. Here, we report a case of polyclonal Streptococcus cristatus endocarditis in a 14-year-old woman with a history of Tetralogy of Fallot. Three sets of admission blood cultures and a commercial plasma metagenomics assay were negative for pathogens, despite persistent vegetations observed on the valve during a later procedure. Multiple strains of Streptococcus cristatus were identified from the explanted valve by amplicon-based 16S rRNA sequencing, confirming the patient had received appropriate antibiotic therapy. This case highlights limitations in the use and interpretation of clinical metagenomics for infectious disease diagnosis and indicates that the clinical yield of these tools may depend upon infection type and anatomic location.
Choroidal infarction following ophthalmic artery chemotherapy
Authors: Kelley J Bohm, Y Pierre Gobin, Jasmine H Francis, Gabrielle McInerney, Anahita Dabo-Trubelja, Paul H Dalecki, Brian P Marr, David H Abramson
Journal: Int J Retina Vitreous (2018)
Keywords: choroidal infarction, mthfr, nitrous oxide, ophthalmic artery chemotherapy, retinoblastoma
MeSH terms: Case Reports

Background:
Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (N2O) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive N2O during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk.
Case presentations:
Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts. Four retinoblastoma patients with advanced intraocular disease (2 males, 2 females: 13-58 months) experienced choroidal infarcts within the one-month period after OAC, in which procedural N2O induction was used (duration between 21 and 58 min). All 4 patients had MTHFR (chromosome 1p, position 36.22) genetic abnormalities: one was homozygous for the C677T mutation, one was C677T heterozygous, one was A1298C heterozygous, and one was heterozygous for both C677T and A1298C. In all 4 patients, indirect ophthalmoscopy and fundus photography showed marked disturbance of the retinal pigment epithelium and optical coherence tomography (OCT) confirmed thinning of the choroid. Follow-up time ranged from 15 to 46 months (median 21 months).
Conclusions:
Choroidal infarction in eyes treated with OAC developed in children who were both deficient in at least one working allele of the MTHFR gene (heterozygous or homozygous) and received N2O induction during OAC.
Gallstone Dislodgement in the Airway during ERCP: A Case Report and Review of the Literature
Authors: Hisham Hurreiz, Amira Babikir, Edward Black
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Endoscopic retrograde cholangiopancreatography (ERCP) is a diagnostic and therapeutic procedure with many studied complications. We are presenting a rare complication of ERCP in choledocholithiasis: gallstone dislodging into the airway upon retrieval. The patient is a 37-year-old female admitted with obstructive jaundice. She was evaluated, and her management plan included a referral for an ERCP to extract the impacted common bile duct stones. Upon retrieval of the gallstone, it fell out the basket and lodged into the airway which was confirmed on bronchoscopy and successfully retrieved. This report describes successful management of a rare but potentially dangerous complication of ERCP to remove impacted CBD stones. The possible complications of delayed removal or inability to remove gallstones from the airway have yet to be studied and reported but are likely to include recurrent chest infections, bronchiectasis, and empyema of the lung.
Presentation of intestinal malrotation and midgut volvulus in adults: Case report & literature review
Authors: Hassan Dehaini, Rakan Nasser Eldine, Samer Doughan, Mohammad Khalifeh, Hala Khasawneh, Hero Hussain, Eman Sbaity
Journal: Int J Surg Case Rep (2020)
Keywords: case report, congenital disease, intestinal obstruction, ladd procedure, late presentation
MeSH terms: Case Reports

Introduction:
Malrotation is considered a newborn disease. This case report sheds light on the rare, but possible late presentation of malrotation in adulthood, which if missed, can leave the patient in a detrimental state.
Presentation of case:
28-year-old female presented in critical state with acute abdomen. Computed tomography abdomen/pelvis showed midgut volvulus, requiring urgent laparotomy. The patient's bowels were discolored, yet they normalized upon detorsion, except for a small portion, which was equivocal and left for observation. Ladd's bands were excised, and the abdomen was closed with Bogota bag for re-exploration. The patient underwent two more laparotomies to observe the intestinal segment until it was back to normal. Ladd procedure was then completed, and an absorbable mesh was applied. Follow-up of 20 months has been uneventful, except for a small, asymptomatic, incisional hernia.
Discussion:
Malrotation in adults is often missed due to its subacute, nonspecific presentation. It is often diagnosed by CT abdomen, which shows inversion or vertical positioning of the superior mesenteric vessels. Symptomatic, but stable patients, can undergo laparoscopic Ladd procedure, which carries the benefit of less length of stay. While an incidental malrotation can be prophylactically operated on, correcting asymptomatic malrotation beyond age of 20 is ineffective and possibly harmful.
Conclusion:
Intestinal malrotation presenting in an adult should be on the differential diagnosis when dealing with abdominal pain, especially in the context of small bowel obstruction in a virgin abdomen. It is vital to consider a patient's age prior to prophylactically operate on malrotation discovered incidentally.
Analysis of Microcirculation Changes in the Macular Area and Para-Optic Disk Region After Implantable Collamer Lens Implantation in Patients With High Myopia
Authors: Yingnan Xu, Weihua Yang, Tan Long, Weihong Shang, Xiangzhong Xu, Jinfan Wang, Jin Yao, Keran Li
Journal: Front Neurosci (2022)
Keywords: blood flow density, implantable collamer lens implantation, macular area, myopia, optical coherence tomography angiography, para-optic disk, retinal microcirculation

Myopia has become an important public health problem to be solved urgently. Posterior chamber phakic implantable Collamer lens (ICL) implantation is one of the latest and safest products for myopia correction worldwide. This prospective cross-sectional case series aimed to observe changes in the macular retinal thickness, retinal nerve fiber layer (RNFL) thickness of para-optic disk region, and blood flow density after posterior ICL implantation in patients with high myopia using optical coherence tomography angiography (OCTA). A total of 67 eyes of 67 patients with high myopia, who underwent ICL implantation at The Affiliated Eye Hospital of Nanjing Medical University from January 2020 and December 2020, were included. The spherical equivalent (SE) of the operative eyes was >-6.00 D. The changes in vision, intraocular pressure (IOP), SE, and vault were observed pre-operatively, and follow-up were performed 1 week, 1 month, and 3 months. OCTA was used to observe the changes in the CRT, retinal thickness of paracentral fovea, FAZ, superficial and deep retinal blood flow density in the macular area, RNFL thickness of para-optic disk region, and blood flow density before and after ICL implantation. The uncorrected distance visual acuity (UDVA) and best corrected distance visual acuity (CDVA) of the patients post-operation were significantly improved (P < 0.001). The IOP increased in comparison with other time points at 1 week post-operation (P < 0.05). There were no significant changes in CRT post-operation. The retinal thickness in the upper, lower, nasal, and temporal quadrants of the paracentral fovea increased significantly at 1 month and 3 months post-operation (P < 0.05). The FAZ area at all postoperative time points were decreased (P < 0.001). At 3 months post-operation, the blood flow density of the superficial and deep retinal layers in the upper, lower, and nasal macular area were significantly reduced (P < 0.05). At 1 month post-operation, the RNFL thickness in the temporal para-optic disk region and blood flow density were significantly reduced (P = 0.001 and P < 0.05, respectively). ICL implantation for highly myopic eyes led to an increase of the retinal thickness in the upper, lower, nasal, and temporal regions of the paracentral fovea; reduction of RNFL thickness in the temporal area of para-optic disk; decrease in FAZ area; and decrease in the blood flow density of some deep and superficial retinal layers as well as that of the temporal para-optic disk region.
Hereditary nonsyndromic gingival fibromatosis: report of family case series
Authors: Syed Wali Peeran, Karthikeyan Ramalingam, Syed Ali Peeran, Marei Hamed Mugrabi, Khaled Awidat Abdulla
Journal: Case Rep Dent (2013)

Hereditary gingival fibromatosis (HGF) is a rare, benign disorder with slowly progressive enlargement of maxillary and mandibular gingiva. Herewith, we report the first case series of HGF presenting among mother and all of her 3 children. Their complaints included unaesthetic appearance due to gingival growth, malocclusion, and difficulty in mastication. Conventional gingivectomy with oral hygiene measures and regular followup is the treatment of choice for such presentation.
Juxtaglomerular cell tumor: report of a case with unusual presentation
Authors: Priscilla Quach, Ameer Hamza
Journal: Autops Case Rep (2022)
Keywords: aldosterone, glomus tumor, hypertension, juxtaglomerular apparatus, renin
MeSH terms: Case Reports

Juxtaglomerular cell tumor is a benign, renin-secreting neoplasm. The tumor arises from the juxtaglomerular apparatus cells of the kidney. Because the tumor is hormonally active, patients usually suffer from hypokalemia, hyperaldosteronism, and hypertension. Herein, we describe a case of a 19-year-old Asian female with a somewhat unusual presentation. A 19-year-old Asian female presented with upper extremity weakness, numbness, and tingling. On physical examination, the only notable finding was hypertension. Extensive workup revealed elevated aldosterone level and plasma renin activity. CT scan of the abdomen revealed a 2.2 cm mass in the lower pole of the left kidney. The mass was resected by partial nephrectomy. On microscopic evaluation, the tumor had glomoid appearance with sheets of uniform, round to polygonal cells with clear to eosinophilic cytoplasm. Immunohistochemical stains showed the tumor cells to be positive for CD117, CD34 and CD10 and negative for ER, PR, CK7, PAX-8, pan-cytokeratin, EMA, S100, Melan-A, HMB45, SMA and CAIX. Diagnosis of Juxtaglomerular cell tumor was rendered. This case highlights the importance of a regular physical exam and a high index of suspicion in patients presenting with unusual complaints.
Telangiectatic adenoma - computed tomography and magnetic resonance findings: a case report and review of the literature
Authors: Tatiana Chinem Takayassu, Edson Marchiori, Antonio Eiras, Rafael Ferracini Cabral, Fernanda Caseira Cabral, Raquel Ribeiro Batista, Gláucia Zanetti, Paula Cristina Pereira Dias
Journal: Cases J (2009)

Telangiectatic adenoma is a new classification of a hepatic lesion. It was previously named telangiectatic focal nodular hyperplasia but it is in fact true adenoma with telangiectatic features. We report here a case of telangiectatic adenoma in a 72-year-old woman. The image features are lack of a central scar, a heterogeneous lesion, hyperintensity in T1-weighted MR images, strong hyperintensity in T2-weighted MR images, and persistent contrast enhancement in delayed-phase contrast-enhanced CT or T1-weighted MR images. It is a monoclonal lesion with potential of malignancy. The treatment of telangiectatic adenoma is surgery, the same way as hepatic adenoma. Focal nodular hyperplasia may be managed by clinical follow-up alone.