OpenMed/multicare-articles huggingface dataset:
A Case of Long-Tract Ileocolic Intussusception Secondary to Well-Differentiated Cecal Adenocarcinoma
Authors: Mohamad Ballan, Mahroo Aghababaei, An Guo Michael Chin, Dmitriy Kim
Journal: Cureus (2024)
Keywords: adult intestinal invagination, adult intussusception, cecal adenocarcinoma, ileocolic intussusception, ileocolic type
MeSH terms: Case Reports

Intussusception denotes the intricate phenomenon wherein one segment of the bowel undergoes invagination or telescoping into its contiguous distal segment. The ensuing invaginated segment may be propelled forward through peristaltic movements, potentially precipitating bowel obstruction or ischemia, culminating in necrosis of the affected bowel segment. Although the precise etiology of intussusception remains elusive, particularly in cases devoid of an identifiable lead point, dysrhythmic contractions and lymphoid hyperplasia have been implicated in the pathophysiology of this condition. We present the case of an 86-year-old African American female with a past medical history of hypertension and asthma who presented to our emergency room with a seven-day history of worsening abdominal. The pain was described as sharp and intermittent, and it would worsen with every meal or drink. A physical exam demonstrated the right lower quadrant with vague abdominal tenderness, especially below the umbilical region. Computed tomography of the abdomen and pelvis revealed a long segment of ileocolic obstructing intussusception in the ascending colon, with a 2.6 cm solid mass serving as a lead point. Swift intervention ensued with an urgent exploratory laparotomy, culminating in a right hemicolectomy to excise the intussuscepted segment of the bowel. The pathological examination identified a well-differentiated adenocarcinoma of the cecum, categorized as T1N0M0, with all 20 resected lymph nodes yielding negative results. This illustrative case presents a unique insight into a patient with ileocolic obstructing intussusception, caused by a well-differentiated adenocarcinoma acting as the lead point, a relatively uncommon occurrence in adults. Diagnosing intussusception in adults is challenging due to its nonspecific symptoms, which are similar to those of various other gastrointestinal disorders. Therefore, it is crucial for medical providers to be acutely aware of the possibility that adenocarcinoma can trigger obstructing intussusception in various parts of the bowel.
Very severe aplastic anemia in a child with pulmonary mucormycosis: a case report
Authors: Minchun Huang, Nanchuan Jiang, Yahui Ren, Yun Peng, Xiaoyan Wu
Journal: Front Pediatr (2024)
Keywords: left lower lobectomy, metagenomic next-generation sequencing, pulmonary mucormycosis, reverse halo sign, very severe aplastic anemia
MeSH terms: Case Reports

Aplastic anemia (AA), is a rare but potentially life-threatening disease characterized by pancytopenia and a hypocellular bone marrow. Pulmonary mucormycosis (PM) is a rare but life-threatening fungal infection observed in immunocompromised patients, particularly those with neutropenia and those using corticosteroids, with a high mortality rate from 40 to 80%. However, PM diagnosis and treatment remain challenging. This study reports a case of very severe aplastic anemia (VSAA) in a male child with PM. The innovation of this article lies in the following aspects: the patient exhibited typical clinical manifestations, the reverse halo sign (RHS) on chest computed tomography (CT), and a positive metagenomic next-generation sequencing (mNGS) analysis; despite aggressive anti-infective treatment and left lower lobectomy, he experienced a poor clinical outcome. Reflecting on cases with poor prognosis can indeed offer valuable insights and opportunities for learning. This study underlines the diagnostic challenges in mucormycosis, which should be considered in persistent fever that is unresponsive to standard antibiotic and antifungal therapies, and conduct a comprehensive examination to achieve early detection, diagnosis and treatment. It was concluded that, in addition to antifungal treatment, early surgery is essential for treating mucormycosis.
An Intrahepatic Fluorodeoxyglucose (FDG)-PET/CT False-Positive Tumor Secondary to Foreign Body Granuloma Masquerading as Colon Cancer Liver Metastasis: A Case Report
Authors: Takehiko Hanaki, Soichiro Honjo, Mikiya Kishino, Yuki Murakami, Manabu Yamamoto, Tokuyasu Naruo, Teruhisa Sakamoto, Toshimichi Hasegawa, Yoshiyuki Fujiwara
Journal: Cureus (2024)
Keywords: colon cancer liver metastasis, foreign-body granuloma, hepatectomy, positron emission tomography/computed tomography, schloffer’s tumor
MeSH terms: Case Reports

A suture placed next to a dissected liver section during the initial hepatectomy may become an unlikely intrahepatic foreign body granuloma. In this report, we describe a case where a silk suture in the liver section plane placed during initial hepatectomy for synchronous colon cancer metastasis became an intrahepatic foreign body granuloma that exhibited fluorodeoxyglucose (FDG) accumulation on positron emission tomography/computed tomography (PET/CT). The granuloma was resected as the second metachronous liver metastatic lesion. A 73-year-old female was referred for a planned second hepatectomy. She had undergone colectomy and hepatectomy for advanced cancer of the ascending colon and synchronous liver metastasis approximately two years ago. However, two possible liver metastases with FDG accumulation were identified in hepatic segments IV and V after one year and nine months after the initial resection. A second hepatectomy was planned after administering systemic chemotherapy. She underwent a left lobectomy with a middle hepatic vein and partial segment V hepatectomy six months after liver lesion identification. The segment IV lesion was histologically proven to be a liver metastasis adenocarcinoma. The segment V lesion revealed a silk thread on the residual liver side at the initial hepatectomy, which was histologically diagnosed as a foreign body granuloma. The possibility of intrahepatic foreign body granuloma development should be considered in subsequent follow-ups in cases where sutures were applied to the dissected residual liver plane during the initial hepatectomy. Additionally, a thorough second hepatectomy should be considered if recurrence is suspected.
Recurrent Transverse Colon Volvulus After Operative Detorsion: A Case Report
Authors: Gemechu Lemi Yadeta, Birhanu Abdisa Tesso, Langa James Oriho
Journal: Cureus (2024)
Keywords: colonic volvulus, large bowel obstruction, operative detortion, recurrent volvulus, transverse colon volvulus
MeSH terms: Case Reports

Transverse colon volvulus is a rare type of colonic volvulus. Here, we present a case of a 40-year-old male patient with a recurrent transverse colon volvulus after operative detorsion. He presented with a history of intermittent crampy abdominal pain of three days duration associated with failure to pass both feces and flatus. He has a history of abdominal distention and vomiting. The patient has a history of repeated abdominal surgeries. His last surgery was two years before the presentation, laparotomy with operative detorsion without colopexy for viable transverse colon volvulus. The patient was explored, and transverse colectomy was done with two-stage procedures. The transverse colon volvulus can occur simultaneously or metachronously with other types of colonic volvulus. A high index of suspicion is needed for diagnosis. Management of transverse colon volvulus should be resection with or without primary anastomosis.
A Physiotherapeutic Approach to a Rare Case of Windswept Deformity in a Male Adolescent
Authors: Rutuja G Sawalkar, Deepali S Patil, Richa S Gandhi
Journal: Cureus (2024)
Keywords: gait training, genu valgus, genu varus, physical rehabilitation, primary hyperparathyroidism, windswept deformity
MeSH terms: Case Reports

Primary hyperparathyroidism (PHPT) can lead to a rare condition in children and adolescents known as windswept deformity. This deformity involves one knee exhibiting an abnormal outward angulation (valgus deformity), while the other knee shows an abnormal inward angulation (varus deformity). This asymmetrical syndrome, resembling the effect of strong winds, gives the impression that the knees are being swept in opposite directions. Various factors, such as structural bone or joint defects, accidents, or underlying disorders, can contribute to the development of windswept deformity. PHPT, a common endocrine condition characterized by elevated levels of parathyroid hormone and blood calcium, is unusual in the pediatric and adolescent populations. It can result in complications like osteoporosis and bone abnormalities, with genu valgus (outward knee angulation) being an exceptionally rare symptom. This case discusses a 19-year-old male who underwent corrective surgery for genu valgus and presented with windswept deformity due to teenage hyperparathyroidism. The case study outlines the physiotherapeutic rehabilitation strategy, emphasizing treatments such as cryotherapy, patellar mobilization, and gait training. Tailored physical therapy rehabilitation plays a crucial role in the postoperative care of patients undergoing corrective osteotomies. The results indicated a significant improvement in muscle strength, an expansion of the range of motion (ROM), and a noticeable enhancement in the individual's functional autonomy following adherence to the postoperative physiotherapy (PT) plan.
A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome
Authors: Giulia Paparella, Eleonora Galosi, Emanuele Cerulli Irelli, Luca Angelini, Daniele Birreci, Davide Costa, Martina De Riggi, Antonio Cannavacciuolo, Andrea Truini, Matteo Bologna
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: kcnq2, kinematics, movement disorders, skin biopsy, tremor
MeSH terms: KCNQ2 Potassium Channel / genetics, Tremor / genetics, Tremor / physiopathology, Case Reports, Female, Humans, Middle Aged, Mutation, Missense, KCNQ2 Potassium Channel, KCNQ2 protein, human

Background:
Tremor disorders have various genetic causes.
Case report:
A 60-year-old female with a family history of tremor presented a combined tremor syndrome, transient episodes of loss of contact and speech disturbances, as well as distal painful symptoms. Genetic screening revealed a novel heterozygous missense variant in the KCNQ2 gene.
Discussion:
The KCNQ2 protein regulates action potential firing, and mutations in its gene are associated with epilepsy and neuropathic pain. The identified variant, although of uncertain significance, may disrupt KCNQ2 function and also play a role in tremor pathogenesis. This case highlights the importance of genetic screening in combined tremor disorders.
A fatal case of Aeromonas jandaei necrotizing fasciitis
Authors: Anjali Anil, Mani Bhushan Kumar, Sachin Chauhan, Pallab Ray, Divya Dahiya, Archana Angrup
Journal: Access Microbiol (2023)
Keywords: aeromonas jandaei, anaemia, cellulitis, necrotizing fasciitis
MeSH terms: Case Reports

Introduction:
Necrotizing soft tissue infections (NSTIs) are associated with a fulminating course because of their rapid destruction of tissue planes underlying the skin. Aeromonas -associated monomicrobial NSTIs are usually associated with exposure to fresh water, particularly among agricultural workers and fish handlers. Albeit uncommon in incidence, urgent medical and surgical intervention are required once a diagnosis has been made.
Case report:
A 40-year-old male patient, a known case of alcoholic liver disease, presented to the emergency department with pain and diffuse swelling of bilateral lower limbs, which quickly progressed to form blackish discolouration and blebs. Blood for preliminary haematological and biochemical investigations, as well as fluid draining from blebs, were sent for microbiological investigation. The Gram stain revealed occasional neutrophils and Gram-negative bacilli, and pure growth in aerobic culture was identified as Aeromonas jandaei by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). The patient was started on empirical antimicrobials, although lesions continued to progress and he ultimately succumbed within 12 h of hospital admission.
Conclusion:
As appropriate antimicrobial therapy and early surgical intervention are required for management of the same, occupational exposure and the fulminant course should raise suspicion of Aeromonas -associated infections.
Case Report: Gastrointestinal neuroendocrine carcinoma with SMARCA4 deficiency: a clinicopathological report of two rare cases
Authors: Ping Zhou, Yiyun Fu, Weiya Wang
Journal: Front Oncol (2023)
Keywords: brg1, smarca4, swi/snf, gastric cancer, neuroendocrine carcinoma
MeSH terms: Case Reports

Background:
Gastrointestinal neuroendocrine carcinoma (GI NEC) is a rare but highly malignant neoplasm with an aggressive clinical course. SMARCA4 is one of the subunits of the SWI/SNF chromatin remodeling complex. SMARCA4 deficiency can occur rarely in subsets of NECs. Reports of the clinicopathological features of GI NECs with SMARCA4 deficiency are limited.
Methods:
In this study, we retrospectively reported two rare cases of GI NEC with SMARCA4 deficiency and described the clinicopathological, radiographic and histopathological features.
Results:
Case 1 was a 43-year-old male with a stage cT3NxM1, IV tumor. Case 2 was a 64-year-old female with a stage cT4aN1M0, IIIA tumor. Both tumors presented as ulcerated masses with infiltration. Pathological examination indicated a solid architecture with poorly differentiated morphology, and complete loss of SMARCA4 (BRG1) was found. Immunohistochemical staining showed positivity for Syn, CgA and CD56. The Ki-67 index was 90% and 70%, respectively. None of the cases had mismatch repair (MMR) deficiency. Case 1 received treatment with chemotherapy and anti-PD-1 immunotherapy. He did not respond to treatment, and died 9 months later. Case 2 received neoadjuvant chemotherapy before surgical treatment, and the tumor showed TRG3 in response to neoadjuvant chemotherapy, chemotherapy and anti-PD-1 immunotherapy were continued after surgical resection. There was no evidence of disease for 10 months.
Conclusions:
GI NEC with SMARCA4 deficiency is a rare entity of gastric NEC. SMARCA4 may be a promising targetable and prognostic biomarker. BRG1 immunohistochemical staining could be performed for GI NECs. Further studies with a larger cohort will be needed.
Osimertinib inhibits brain metastases and improves long-term survival in a patient with advanced squamous cell lung cancer: a case report and literatures review
Authors: Zhiqin Zhang, Jiamao Lin, Linke Yang, Yang Li
Journal: Front Oncol (2023)
Keywords: egfr mutation, cancer, non-small cell lung carcinoma, squamous cell carcinoma, targeted therapy
MeSH terms: Case Reports

Background:
Squamous cell carcinoma (SCC) is one of the most common subtypes of non-small cell lung cancer, but its treatment options remain limited. Epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) have limited efficacy in the treatment of lung SCC. Here, we report an SCC patient who developed EGFR-T790M mutation and showed gefitinib resistance achieved an extremely long survival by taking Osimertinib alternatively.
Case summary:
A patient, 66-year-old non-smoking and drinking male with advanced SCC who was deemed inoperable at the time of diagnosis. The first genetic testing showed deletion mutation of exon 19 of EGFR. The patient was then treated with gefitinib with no significant efficacy. EGFR-T790M mutation was found in the second genetic test. The treatment regimen was changed to radiotherapy with Osimertinib, and the patient's primary lesion and the brain metastases were well controlled.
Conclusion:
This typical case highlights the important role of Osimertinib in patients with SCC carrying EGFR mutations.
Management of Gestational Gigantomastia with Goldilocks Procedure after Mastectomy: A Case Report and Review of Literature
Authors: Ho Yoon Jeong, Taewoo Kang, Heeseung Park, Kyoung Eun Kim, Su Bong Nam, Ju Young Go, Seong Hwan Bae
Journal: Arch Plast Surg (2024)
Keywords: breast, gigantomastia, mastectomy

Gestational gigantomastia is characterized by the rapid growth of breasts during pregnancy. The treatment method of gestational gigantomastia is unclear; if the medical treatment is ineffective, surgery is considered. However, sufficient research on which method is best to perform breast reconstruction for the gestational gigantomastia patient has not yet been conducted. Our patient was young and had aesthetic needs; thus, we did not recommend modified radical mastectomy. However, it was difficult for the patient to consider active reconstruction using an implant or autologous tissue because of the expected complications and economic problems. The patient had a thin body shape and very large breasts compared with the trunk. Therefore, breast volume was not significantly required after reconstruction. Additionally, we expected that a considerable portion of skin would remain after mastectomy as a tubular-shaped breast. It was expected that the Goldilocks technique would be sufficient to meet the patient's volume needs. Therefore, we proceeded with total mastectomy and reconstruction using the Goldilocks procedure. No complications were recorded after the operation; most of the patient's discomfort was resolved, and the shape and size of the breasts were satisfactory.
Complications in post-mortem GHB cut-off values in urine samples: A case report
Authors: N H C Loos, K E van den Hondel, U J L Reijnders, E J F Franssen
Journal: Toxicol Rep (2023)
Keywords: forensic toxicology, gamma-hydroxybutyric acid (ghb), post-mortem, urine cut-off reference values
MeSH terms: Case Reports

Gamma-hydroxybutyric acid (GHB) is a drug of abuse, that interplays with a GABAergic system, resulting in an euphoric state and increased mood and impulses. Two cases of fatal mixed intoxications including GHB intake are presented here. In both cases, GHB was used together with multiple other drugs. Interpretation of GHB cut-off values are complicated in post-mortem analysis, because GHB can be post-mortem formed. The post-mortem GHB formation is dependent of the post-mortem interval (PMI) and the storage conditions of the samples. The GHB concentrations in urine are more stable compared to blood samples, when the samples are stored at the correct way at - 20 °C. Therefore, urine is the recommended matrix to analyze in toxicological screenings, since it allows more specific determination of exposure to exogenous GHB. Different cut-off values are used for matrices from living and deceased people. A cut-off value of 30 mg/L is recommended to discriminate between endogenous concentrations and concentrations resulting from exogenous GHB exposure. Moreover, post-mortem GHB formation can take place before sampling. However, when the samples are immediately stored at cooled conditions, no in vitro formation of GHB will take place. Urinary screening of GHB may serve as an initial screening for estimation of exposure of GHB in the body. However, additional quantitative GHB analysis in blood is required to estimate GHB exposure at the time of death. Furthermore, to obtain more reliable results for the ante-mortem GHB exposure, it may be useful to measure other biomarkers, like some GHB metabolites, especially in blood.
Case report: Uterine leiomyoma with fumarate hydratase deficiency
Authors: Diana Bužinskienė, Dominyka Grinciūtė, Mindaugas Šilkūnas, Evelina Šidlovska
Journal: Front Med (Lausanne) (2024)
Keywords: case report, fumarate hydratase, hereditary leiomyomatosis and renal cell carcinoma, skin leiomyomatosis, uterine leiomyomatosis
MeSH terms: Case Reports

Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma. Herein, we report a case of fumarate hydratase deficient leiomyoma. The patient was a young female presenting with large uterine leiomyoma and multiple kidney angiomyolipomas. The report presents the chosen treatment and the challenges of differential diagnosis.
Malrotation with mid-gut volvulus and partial small bowel peritoneal membrane encapsulation
Authors: Ryan Frerichs, Tanusha Sewchuran
Journal: SA J Radiol (2024)
Keywords: bowel obstruction, congenital peritoneal encapsulation, malrotation, upper gastrointestinal fluoroscopy, volvulus
MeSH terms: Case Reports

Urgent investigation is crucial for infants with bilious vomiting, potentially indicating bowel obstruction. Upper gastrointestinal fluoroscopy aids diagnosis, but is not without its challenges. This case report describes a rare case of neonatal intestinal malrotation and mid-gut volvulus with an additional complication of congenital peritoneal encapsulation.
Contribution:
This case study offers insights into associated diagnostic challenges and underscores the value of utilising fluoroscopy in diagnosing complex gastrointestinal conditions.
Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus
Authors: Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguchi
Journal: Front Pediatr (2024)
Keywords: hemihypertrophy, limb overgrowth, loss of heterozygosity, mtor inhibitor, pharmacological treatment, somatic mutation, tuberous sclerosis complex
MeSH terms: Case Reports

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2. Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously. We herein report a case of TSC-associated hemihypertrophy. In this case, genetic studies revealed TSC1 loss of heterozygosity as the cause of hemihypertrophy. Clinically, pharmacological treatment with an mTOR inhibitor sirolimus successfully ameliorated cosmetic and functional problems with no intolerable adverse effects.
Mixed Plate Ductal Intrahepatic Cholangiocarcinoma Mimicking Hepatocellular Carcinoma
Authors: Sania Ajmal, Srujan Edupuganti, Adiraj Singh
Journal: Cureus (2024)
Keywords: diagnostic testing, ductal plate malformation, hepatitis c (hcv) infection, intrahepatic cholangiocarcinoma, portal vein thrombosis and malignancy
MeSH terms: Case Reports

Cholangiocarcinoma (CCA) refers to malignancies of the bile ducts that arise in the intrahepatic, perihilar, or distal (extrahepatic) biliary tree, excluding the gallbladder and ampulla of Vater. Although rare, the majority of these cancers are locally advanced at presentation, making them extremely fatal. We present a case of a 65-year-old man who came in for abdominal pain and ascites and was found to have portal vein thrombosis. Initial imaging showed a hepatic lesion, raising suspicion of a hepatic malignancy. Despite the multiple imaging modalities used, the diagnosis remained uncertain. Eventually, a biopsy of the lesion showed it to be a variant of intrahepatic CCA, which has mixed features of hepatocellular carcinoma and CCA. This variant is highly malignant and poorly responsive to treatment, leading to a poor prognosis. Our patient on diagnosis was categorized as stage 4 cancer, and although treatment was initiated, she succumbed to the disease in six months. Based on our experience with this patient, we would like to highlight the significance of a multimodal imaging approach and the necessity of tissue diagnosis when the initial work-up is inconclusive since these factors will also impact the course of management.