IntroductionA volvulus occurs when a segment of intestine, usually part of the colon, twists around its mesentery. Following this rotation, initially venous return is disturbed and causes ischemia caused by venous stasis. With the prolongation of obstruction in the mesenteric vessels, along with the distention of the twisted segment of the intestine due to the progressive production of gas by the bacteria inside it, the arterial input is also disturbed, and the mucosal ischemia gradually progresses towards the muscular and serous layers, leading to perforation of the entire thickness of the intestineSigmoid volvulus accounts for 2% to 5% of colonic obstructions in Western countries and 20% to 50% of colonic obstructions in Eastern countries (1). This occurs mostly in patients with lack of mobility and a history of chronic constipation, where the sigmoid colon becomes chronically distended and redundant.Undescended testis (UDT) is defined as one or both testicles absent in scrotal sac when descending processes become disturbed and testis remains inside the peritoneal cavity (2). There are some very known complications of a undescendent intra-abdominal testicle such as cancer, ischemia and infertility(3); But the rotation of the colon around the spermatic cord of one UDT, it is a very rare phenomenon that there is no similar report.In this article, we introduce a 67-year-old man who underwent laparotomy with the diagnosis of sigmoid volvulus, and the intraoperative findings were surprising.
INTRODUCTIONTakotsubo syndrome is an acute heart disease that mimics the typical features of acute coronary syndrome (ACS) . Although takotsubo syndrome has an uncertain prevalence in the general population, in women with suspected ACS, the prevalence is estimated to be around 5-6% . The annual incidence is very low and is approximately 0.02% .Unlike ACS, TS is reversible and the heart often heals within four to eight changes weeks. The syndrome is characterised by transient systolic and diastolic left ventricular dysfunction with wall motion abnormalities . This condition, which was first described by Dote et al. in Japan in 1990 , usually affects postmenopausal women who have experienced some physical or psychological stress. However, it can also occur in the absence of these triggers .The prevalence of saccular aneurysms in the general population is estimated at 3.2%. Approximately 20 to 30% of cases present in the form of multiple aneurysms . Intracranial aneurysms are generally diagnosed after episodes of subarachnoid haemorrhage (SAH), which causes a high rate of morbidity and mortality . Rupture of an aneurysm is believed to be responsible for 0.4 to 0.6% of all aneurysm deaths, and approximately 10% of patients die before arriving at the hospital. Takotsubo syndrome is generally reported to have an incidence of 0.8-17% in patients with SAH caused by ruptured aneurysm . However, this case report is relevant for the clinical and pathophysiological observation of the possible association between aneurysms of the internal carotid arteries (ICA) and TS, with the latter being able to serve as an alert for possible aneurysms and thus allow for intervention prior to disruption.
Background: Aberrant migration of parathyroid glands from their embryologic origin may result in undescended parathyroid glands. We present a case of an ectopic parathyroid adenoma at the level of the pyriform sinus. Methods: A 41-year-old female was evaluated for primary hyperparathyroidism. Following non-localizing ultrasound and planar sestamibi imaging, the patient underwent
AUTHORSDr. Saroj Poudel Clinical Pharmacist Critical Care Medicine, Nepal Mediciti Email: email@example.comDr. Rupak Chalise Anesthesiologist Critical Care Medicine, Nepal Mediciti Email: firstname.lastname@example.orgDr. Manoj Bist Medical Officer Critical Care Medicine, Nepal Mediciti Email: email@example.comDr. Ashim Regmi Junior Consultant Critical Care Medicine, Nepal Mediciti Email: firstname.lastname@example.orgDr. Anup Ghimire Junior Consultant Critical Care Medicine, Nepal Mediciti Email: email@example.comDr. Kishor Khanal Intensivist and ICU Coordinator Critical Care Medicine, Nepal Mediciti Email: firstname.lastname@example.org
Expanding the spectrum of short rib thoracic dysplasia case with a novel nonsynonymous and a synonymous variant in DYNC2H1Bilgesu Ak1: (email@example.com), Mete Akısü2(firstname.lastname@example.org), Asude Durmaz1(email@example.com), Mehmet Yalaz2(firstname.lastname@example.org), Demet Terek2(email@example.com), Ayca Aykut1(firstname.lastname@example.org)Bilgesu Ak ORCID ID: 0000-0002-0422-68701 Department of Medical Genetics, Ege University Hospital, Izmir, Turkey2 Department of Neonatalogy, Ege University Hospital, Izmir, TurkeyEthics Approval:The study was approved by the biomedical ethics committee at Ege University Hospital.Consent Statement:Written informed consent was obtained from the patient’s parents, because patient is under 16, to publish this report in accordance with the journal’s patient consent policy.Data Sharing Statement:All data generated or analyzed during this study are included in this published article.Funding:No funding of any kind or funding source was provided during the implementation and execution of this study.Competing interests:The authors declare that they have no competing interests.Acknowledgements:The authors would like to thank the patient for participating in this study.Abstract:Short rib thoracic dysplasia (SRTD), with or without polydactyly, also known as Verma-Naumoff/Saldino-Noonan syndrome, is a type of skeletal ciliopathy. Initially, the IFT80 gene was identified as the causative gene; however, half of the cases are caused by a homozygous or compound heterozygous mutation in the DYNC2H1 gene. Additionally, a digenic mutation involving DYNC2H1 and NEK genes can be responsible for the syndrome. Abnormalities in the skeletal system are essential, and visceral pathologies and metaphyseal findings help distinguish between different forms of SRTDs.In this case report, we present a male patient born in 2014 with phenotypic findings, including bitemporal narrowing, flattened nose, low-set and large uvula, constricted thorax, shortened upper and lower limbs, and clinodactyly in the second toes. There was no consanguinity between the parents, but there was a history of a deceased ex-sister with pulmonary hypoplasia and similar phenotypic findings. Whole exome sequencing (WES) analysis revealed a compound heterozygous mutation in the DYNC2H1 gene, consisting of a novel missense mutation c.6439G>T (p.Asp2147Tyr) and a synonymous mutation c.6477G>A (p.Gln2159=) in trans position. This report emphasizes the importance of considering synonymous variants and compound heterozygosity in patients with suspected diseases like short rib thoracic dysplasia, known for its genetic heterogeneity.Keywords: Short rib thoracic dysplasia; next-generation sequencing; clinical genomics; variant interpretation.Corresponding Author:Prof. Asude DurmazEge University Hospital Medical Genetics, 35100 Bornova, Izmir, Turkeyasudealpman@gmail.comIntroduction:Massively parallel sequencing has facilitated the identification of genetic causes underlying various diseases, particularly skeletal pathologies. As a result, the discovery of new genes and pathways associated with clinical and skeletal disorders has become possible. The Nosology Committee of the International Skeletal Dysplasia Society revised and updated the Nosology and Classification of Genetic Skeletal Disorders in 2019, which includes 461 diseases classified into 42 groups based on clinical, radiographic, and molecular phenotypic differences. Short rib thoracic dysplasia (SRTD) with or without polydactyly type 3 belongs to class 9, which includes ciliopathies with major skeletal involvement.Short rib thoracic dysplasia, also known as Verma-Naumoff/Saldino-Noonan syndrome, is an autosomal recessive or digenic recessive syndrome mainly caused by homozygous or compound heterozygous mutations in the dynein heavy chain, isotype 1B (DYNC2H1) gene, which is crucial for primary cilium function. Phenotypic findings include a constricted thoracic cage, short ribs, shortened tubular bones, and a ’trident’ appearance of the acetabular roof. Polydactyly can also be observed, and there is phenotypic overlap with other forms of SRTDs. The distinction between different forms of SRTDs is primarily based on concomitant visceral pathologies and metaphyseal findings, which may involve various major systems like the central nervous, cardiovascular, gastrointestinal, and genital systems. Due to its genetic heterogeneity, identifying biallelic pathogenic variants in presumed autosomal recessive cases can be challenging. Synonymous variants are often overlooked in bioinformatic analysis due to their high frequency and lack of impact on the amino acid sequence. However, investigating the pathogenicity of synonymous variants can improve the diagnosis in these cases inherited in an autosomal recessive or digenic recessive manner. Half of the cases were initially believed to be caused by mutations in the DYNC2H1 gene, but the gene’s large size (90 exons) and lack of mutational hotspots made genetic testing time-consuming and expensive. Consequently, clinical diagnosis was primarily relied upon. With the advancement of technology, whole exome sequencing (WES) has become the first-line method for identifying mutations in suspected cases. WES is a sensitive, specific, and cost-effective technique for mutation screening and gene discovery in SRTDs, providing a definitive diagnosis that allows for accurate patient counseling and preimplantation genetic diagnosis.Material and Methods:A 23-year-old woman (G2P1) in her 37th week of gestation, presenting with polyhydramnios, was admitted to the Ege University Hospital Women and Child’s Health department. A male baby weighing 2900 grams was born via C-section, and immediately after delivery, he experienced respiratory distress with an APGAR score of 3/7. Physical examination revealed tachypnea and intercostal retractions, along with phenotypic findings such as a narrow chest, short upper and lower limbs, bitemporal narrowing, flattened nasal root, low and large uvula, and clinodactyly in the second toes. Chest radiography showed a constricted thorax, short horizontally oriented ribs, short upper and lower limbs, and elevated clavicles. A skeletal survey revealed a narrow and elongated thorax, hypoplastic lungs, trident acetabulum, and short and thick bones in the arms and legs (Figure 1). Contrast-enhanced thoracic CT confirmed skeletal dysplasia and bilateral atelectatic areas in the lung parenchyma.
Introduction:Pericardial syndromes are not uncommon manifestations in clinical practice . About 5% of all patients admitted to the emergency department with the chief complaint of chest pain, are diagnosed with acute pericarditis . Cardiac involvement is a common presentation of different autoimmune rheumatic diseases. Systemic lupus erythematous (SLE) is a chronic autoimmune rheumatic disease with multiorgan involvement. Cardiac involvement has been reported in about 50% of SLE patients; in some cases, as their first presentation of SLE . The most common type of cardiac involvement in SLE patients is pericarditis . While it is classically known that SLE like most of other autoimmune diseases are more prevalent in women, cardiac involvement as pericarditis in SLE is more prevalent in male patients . Although being a common manifestation of SLE, it is uncommon for acute fibrinous pericarditis with constrictive features to be the first presentation of SLE in patients with severe manifestations and in need for hospital admission .
IntroductionCoronavirus belongs to RNA viruses that cause respiratory, neurologic, enteric, and hepatic diseases distributed among mammals, including humans and birds (1). A novel coronavirus discovered in late 2019 in China caused Coronavirus Disease 2019 (COVID-19). It is associated with complications like severe viral pneumonia, ARDS, AKI, cardiac injury, liver dysfunction, spontaneous pneumothorax, lung cavitation, pleural effusion, pericardial effusion, along with other minor ailments like fever, loss of smell, myalgia, dry cough, lymphadenopathy (2) (3).Pneumothorax due to COVID-19 pneumonia is very rare, and few cases are reported with bronchopleural fistula-associated persistent pneumothorax while recovering from COVID-19 pneumonia (4) (5) (6).
IntroductionEctopic pancreas tissue (EPT) or pancreatic heterotopia is a rarely observed congenital abnormality defined as the presence of pancreatic tissue in another organ without any anatomical or vascular connection to the pancreas. The term consists of the two Greek words ”hetero-” which means ”other” and ”-topia” which means ”site”, pointing out the unique location of pancreatic cells. EPT’s favored sites are the stomach, duodenum, colon, jejunum, and Meckel’s diverticula (1). The gallbladder is a highly infrequent location for EPT (2). Almost all cases are detected incidentally during the histopathological examination after cholecystectomy for other pathologies. The prevalence of EPT in the gastrointestinal tract varies from 0.6% to 13.7% in autopsy series and 0.2% in laparotomies (3, 4). Although the malignant transformation of this tissue is not frequently expected, pathologists must be aware of it to ensure no malignant pathology is present and prevent further misdiagnosis. In this study, we present a case of EPT that we found incidentally during the histopathological examination of the specimen from the gallbladder in a patient who underwent cholecystectomy due to acute cholecystitis.Case HistoryA 40-year-old male was referred to the emergency department for acute pain in the right upper quadrant of the abdomen. The pain was constant and initiated hours before and intensified when he had dinner. He also reported fever, anorexia, nausea, and one involuntary vomiting episode containing only stomach contents. Besides intellectual disability and epilepsy, patient’s medical history was unremarkable otherwise. He was on Valproate(200mg/D), Risperidone(1mg/BD) and Clonazepam(1mg/HS). He denied smoking and any recreational drug use. No allergies were reported. During the clinical examination, his vitals were slightly above normal ranges (Blood pressure: 115/70mmHg; Heart rate: 108bpm; Respiratory rate: 19 breaths/min; Temperature: 37.9°C; Oxygen saturation: 99% without supplemental oxygen). The palpation of the abdomen revealed tenderness in the right upper quadrant and a positive Murphy sign with no rebound tenderness or guarding. The laboratory evaluation was within normal range except for a WBC count of 10300, ESR of 32, and a 2+ CRP. Additionally, he underwent an ultrasonographic evaluation of the upper abdomen, reporting a thickened wall gallbladder containing multiple stones (measuring up to 8x10mm). The patient was scheduled for emergency laparoscopic cholecystectomy under the diagnosis of acute calculous cholecystitis. During surgery, the gallbladder was found to be gangrenous. The patient had a complicated postoperative period due to surgical wound infections and was hospitalized for a week to receive intravenous antibiotics; however, he did not report any delayed complications or symptoms after discharge.