OpenMed/multicare-articles huggingface dataset:
Common variable immunodeficiency associated with inflammatory bowel disease and type I diabetes
Authors: Branka Filipović, Zorica Sporčić, Tomislav Randjelović, Goran Nikolić
Journal: Clin Med Case Rep (2009)
Keywords: diabetes mellitus type i, immunodeficiency, inflammatory bowel disease, perianal fistula
MeSH terms: Case Reports

Common variable immunodeficiency (CVID) is a heterogeneous group of primary immunodeficiency disorders characterized by defective antibody production, low levels of serum immunoglobulins and increased susceptibility to infection. The patient was a 39-year-old male who was admitted to the gastroenterology department with a two week history of diarrhea, blunt abdominal pain below the umbilicus, prolonged febrile state, loss of appetite and loss of body weight of 18 kg during the previous six months. Screening tests of serum immunoglobulins showed decreased concentrations of three types of immunoglobulins: IgA < 0.24 g/L, IgM < 0.18 g/L and IgG < 1.55 g/L. Lymphocytes immunophenotypisation revealed inversed CD4(+)/8(+) T cells ratio, 0.31 and absence of plasma cells (CD138 negative). Colonoscopy showed a rectal mucosa like cobblestones with multiple longitudinal and serpentinous ulceration, without involvement of other segments of the colon and the small intestine. Histopathology revealed aphtous ulcerative lesions, transmural inflammation with multiple lymphoid aggregates and benign lymphoid nodular hyperplasia of the small intestine. Plasma cells were absent from the lamina propria. Magnetic resonance imaging of a perianal fistula demonstrated a trans-sphicteric type. This case is specific because of the three illnesses associated and only one case of an association of diabetes mellitus type I and immunodeficiency reported thus far.
Clinical Significance of Human Metapneumovirus in Refractory Status Epilepticus and Encephalitis: Case Report and Review of the Literature
Authors: Aysel Vehapoglu, Ozden Turel, Turkan Uygur Sahin, Nurettin Onur Kutlu, Akın Iscan
Journal: Case Rep Neurol Med (2015)

Encephalitis is a complex neurological disease that is associated with significant morbidity and mortality, and the etiology of the disease is often not identified. Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. Few reports are available showing possible involvement of hMPV in development of neurologic complications. Here, we describe an infant, the youngest case in literature, with refractory status epilepticus and severe encephalitis in whom hMPV was detected in respiratory samples and review diagnostic workup of patient with encephalitis.
The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature
Authors: S A Ghaznavi, N M A Saad, L E Donovan
Journal: Case Rep Endocrinol (2016)

Background. Primary hyperparathyroidism (PHPT) and Familial Hypocalciuric Hypercalcemia (FHH) result in different maternal and fetal complications in pregnancy. Calcium to creatinine clearance ratio (CCCR) is commonly used to help distinguish these two conditions. Physiological changes in calcium handling during pregnancy and lactation can alter CCCR, making it a less useful tool to distinguish PHPT from FHH. Cases. A 25-year-old female presented with hypercalcemia and an inappropriately normal PTH. Her CCCR was 0.79% before pregnancy and rose to 1.99% in her second trimester. The proband's mother and neonate had asymptomatic hypercalcemia. Genetic analysis revealed a CaSR mutation consistent with FHH. A 19-year-old female presented with a history of nephrolithiasis who underwent emergent caesarean section at 29 weeks of gestation for severe preeclampsia. At delivery, she was diagnosed with hypercalcemia with an inappropriately normal PTH and a CCCR of 2.67%, which fell to 0.88% during lactation. Parathyroidectomy cured her hypercalcemia. Pathology confirmed a parathyroid adenoma. Conclusion. These cases illustrate the influence of pregnancy and lactation on renal calcium indices, such as the CCCR. To avoid diagnostic error of women with hypercalcemia during pregnancy and lactation, calcium biochemistry of first-degree relatives and genetic testing of select patients are recommended.
Nutcracker syndrome: A case report and review of the literature
Authors: Ramandeep Kaur, David Airey
Journal: Front Surg (2022)
Keywords: endovascular stenting, endovascular treatment, left renal vein (lrv), literature review, nutcracker syndrome (nc)
MeSH terms: Case Reports

Background:
Nutcracker syndrome (NS) is an uncommon condition resulting from the compression of the left renal vein (LRV) between the aorta and superior mesenteric artery (SMA), resulting in symptoms such as flank pain and hematuria.
Case presentation:
We present the case of a 30-year-old woman complaining of abdominal pain who was found to have nutcracker syndrome and treated with endovascular stenting of the left renal vein.
Discussion:
We review the literature related to endovascular treatment of NS with focus on the distribution of the sizes of stents and rates of stent migration.
Conclusion:
NC is a rare condition requiring a high index of suspicion for diagnosis. Endovascular treatment is a reasonable option, but its limitations must be considered.
Case Report: Subacute thyroiditis after receiving inactivated SARS-CoV-2 vaccine (BBIBP-CorV)
Authors: Linhua Pi, Jian Lin, Ying Zheng, Zhen Wang, Zhiguang Zhou
Journal: Front Med (Lausanne) (2022)
Keywords: bbibp-corv, coronavirus disease 2019, severe acute respiratory syndrome coronavirus 2, subacute thyroiditis, vaccine
MeSH terms: Case Reports

Background:
Subacute thyroiditis, an inflammatory disease, has been reported caused by vaccines in rare cases. In the context of the coronavirus disease 19 pandemic, various SARS-CoV-2 vaccines have been developed and may be potential triggers for subacute thyroiditis.
Case presentation:
We report a case of subacute thyroiditis 3 days after receiving the second dose of inactivated SARS-CoV-2 vaccine (BBIBP-CorV). The patient did not report a previous history of thyroid disease, upper respiratory tract infection, or COVID-19. Physical examination, laboratory testing, ultrasonography, and radioactive iodine uptake were consistent with subacute thyroiditis. During follow-up, the patient recovered from symptoms and signs, and imaging changes except for hypothyroidism, requiring an ongoing thyroxine replacement.
Conclusions:
Inactivated SARS-CoV-2 vaccine may be a causal trigger leading to subacute thyroiditis. Clinicians should be aware of subacute thyroiditis as a possible thyroid-related side effect of an inactivated SARS-CoV-2 vaccine.
Segmental dilatation of ileum associated with anterior thoracolumbar meningomyelocele and bilateral undescended testes
Authors: Prince Raj, Yogesh Kumar Sarin
Journal: APSP J Case Rep (2015)
Keywords: anterior meningomyelocele, segmental dilatation of ileum, undescended testes
MeSH terms: Case Reports

Segmental dilatation of ileum (SDI) is a rare clinical entity and so is anterior thoracic meningomyelocele (AMC). There has been no reported association between these two clinical entities. We hereby report a very rare presentation of these two in a 4 year old boy who presented with swelling in the right lower abdomen. Preoperative diagnoses were partial cecal volvulus and duplication cyst. At operation, SDI along with AMC was found.
Targeting mTOR in HIV-Negative Classic Kaposi's Sarcoma
Authors: Ofer Merimsky, Irina Jiveliouk, Ronit Sagi-Eisenberg
Journal: Sarcoma (2008)
MeSH terms: Case Reports

A 66-year old female with HIV-negative classic Kaposi's sarcoma responded to mTOR targeting by rapamycin. The response was well documented by PET-CT. This case provides supporting evidence that the mTOR pathway may be important in the tumorigenesis of KS and that rapamycin may have activity in this disease.
Case report: Mixed dementia associated with autoantibodies targeting the vesicular glutamate transporter 2
Authors: Niels Hansen, Bianca Teegen, Sina Hirschel, Jens Wiltfang, Björn H Schott, Claudia Bartels, Caroline Bouter
Journal: Front Psychiatry (2023)
Keywords: alzheimer's dementia, vglut2, autoantibodies, autoimmunity, cognition, depression
MeSH terms: Case Reports

Background:
Autoantibodies against the vesicular glutamate transporter type 2 (VGlut2) can trigger impaired synaptic signaling and are described here for the first time in association with mixed dementia.
Methods:
We report on a 71-year-old female patient with a dementing syndrome who underwent a thorough dementia diagnosis including neuropsychological testing, magnetic resonance imaging (MRI), 18F-fluorodesoxyglucose positron emission tomography (FDG-PET), and a spinal tap to search for neural autoantibodies.
Results:
Our patient exhibited mixed dementia. Her CSF revealed elevated ptau 181 protein and a reduced Aß42/40 ratio indicating Alzheimer's disease (AD) pathology. In addition, neuropsychological testing showed a profile consistent with AD with impaired memory, reduced semantic word fluency, naming disorder, and impaired visuoconstructive skills. Nevertheless, in-depth neuropsychological testing also revealed marked psychomotor slowing and visuospatial perceptual impairments that are more indicative of the presence of DLB. Overall, her dementia is more likely of mixed pathology. In addition, we repeatedly detected VGlut2 autoantibodies in her serum.
Conclusion:
To the best of our knowledge, this report is the first to describe mixed dementia associated with VGlut2 autoantibodies.
Giant duplication of the transverse colon in an adult: A case report and literature review
Authors: Zhihao Peng, Mingkai Zhang, Ruixue Wang, Hai Huang, Zongke Sun, Yanbin Li
Journal: Open Life Sci (2023)
Keywords: adult, emergency surgery, ileus, previous laparotomy, transverse colonic duplication
MeSH terms: Case Reports

Intestinal duplication is a rare congenital malformation that can occur in any segment of the digestive tract. It is most commonly found in the ileum of infants and is rarely reported in adults, especially in the colon. Diagnosing intestinal duplication can be extremely challenging due to its diverse clinical manifestations and complex anatomical structure. Surgical intervention is currently considered the mainstay of treatment. In this report, we presented a case of giant duplication of the transverse colon in an adult.
False Positive COVID-19 Antibody Test in a Case of Granulomatosis With Polyangiitis
Authors: Argyrios Tzouvelekis, Theodoros Karampitsakos, Anastasia Krompa, Evangelos Markozannes, Demosthenes Bouros
Journal: Front Med (Lausanne) (2020)
Keywords: covid-19, antibodies, cross-reactivity, false positive, granulomatosis with polyangiitis
MeSH terms: Case Reports

Collateral damage due to 2019 novel coronavirus disease (COVID-19) represents an emerging issue. Symptoms of COVID-19 are not disease-specific. Differential diagnosis is challenging and the exclusion of other life-threatening diseases has major caveats. In the era of this pandemic, diagnosis of other life-threatening diseases might delay treatment. The Food and Drug Administration has recently authorized the first antibody-based test for COVID-19; however, RT-PCR of nasopharyngeal or oropharyngeal swabs remains the recommended test for diagnosis. We present the first report of a false positive COVID-19 antibody test in a case of Granulomatosis with Polyangiitis (GPA). Specifically, the case concerns an 82-year-old female, never smoker, who was admitted to our hospital with symptoms of fever and general fatigue that had lasted 7 days. She already had a positive IgM test for COVID-19, yet multiple RT-PCR tests had returned as negative for SARS-CoV-2. In the following days, her renal function deteriorated, while hematuria and proteinuria with active urinary sediment developed. Based on high clinical suspicion for ANCA-associated vasculitis, we performed a complete immunologic profile which revealed positive c-ANCA with elevated titers of anti-PR3. Pulses of methylprednisolone along with cyclophosphamide were applied. At day 10, treatment response was noticed as indicated by respiratory and renal function improvement. This report highlights the need for meticulous patient evaluation in order to avoid misdiagnosis in the era of COVID-19.
Isolated cervical rib fracture: a rare etiology of thoracic outlet syndrome
Authors: Rayees Ahmad Dar, Sabiya Hamid Wani, Majid Mushtaque
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Isolated fracture of a cervical rib is a very rare entity and usually presents as a painless swelling or as thoracic outlet syndrome. We describe a case of a 45-year-old woman with history of fall two months back. She presented with symptoms of neurogenic thoracic outlet syndrome for one month. Isolated left cervical rib fracture was documented on X-ray cervical spine. Her fractured cervical rib was resected through a supraclavicular approach, and symptoms resolved completely in the postoperative period.
Application of Saline Infusion Sonocolpography in Diagnosis and Treatment of Perforated Transverse Vaginal Septum
Authors: Ayumi Ono, Iori Kisu, Tomoko Iijma, Hiroshi Senba, Kiyoko Matsuda, Motoko Katayama, Ayaka Iura, Yumiko Miura, Nobumaru Hirao
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Transverse vaginal septum (TVS) is a particularly rare vaginal anomaly, and diagnosis is often difficult in a genital examination. We herein present a case of perforated TVS for which successful diagnosis and treatment were achieved using a new technique referred to as saline infusion sonocolpography. A 32-year-old female presented with primary infertility. Speculum examination revealed a blind vaginal canal with two pinpoint perforating holes. Foley catheters with inflated balloon were inserted into the two apertures, and then normal saline was injected through the catheters to distend the vaginal pouch. This procedure of saline infusion sonocolpography revealed the uterine cervix and vaginal pouch and permitted diagnosis of perforated TVS of the upper vagina. The septum was excised and a normal cervix was ascertained. The patient had no complication such as agglutination of the vagina postoperatively. This case suggests that saline infusion sonocolpography may be useful for diagnosis and treatment of TVS.
Vocal cord palsy: An uncommon presenting feature of myasthenia gravis
Authors: Prahlad K Sethi, Anuradha Batra, Nitin K Sethi, Josh Torgovnick, Edward Arsura
Journal: Ann Indian Acad Neurol (2011)
Keywords: myasthenia gravis, respiratory distress, stridor, vocal cord palsy, vocal cord paralysis
MeSH terms: Case Reports

Vocal cord palsy can have myriad causes. Unilateral vocal cord palsy is common and frequently asymptomatic. Trauma, head, neck and mediastinal tumors as well as cerebrovascular accidents have been implicated in causing unilateral vocal cord palsy. Viral neuronitis accounts for most idiopathic cases. Bilateral vocal cord palsy, on the other hand, is much less common and is a potentially life-threatening condition. Myasthenia gravis, an autoimmune disorder caused by antibodies targeting the post-synaptic acetylcholine receptor, has been infrequently implicated in its causation. We report here a case of bilateral vocal cord palsy developing in a 68-year-old man with no prior history of myasthenia gravis 2 months after he was operated on for diverticulitis of the large intestine. Delay in considering the diagnosis led to endotracheal intubation and prolonged mechanical ventilation with attendant complications. Our case adds to the existing literature implicating myasthenia gravis as an infrequent cause of bilateral vocal cord palsy. Our case is unusual as, in our patient, acute-onset respiratory distress and stridor due to bilateral vocal cord palsy was the first manifestation of a myasthenic syndrome.
Invasive papillary carcinoma treated with neoadjuvant endocrine therapy in which pathological complete response was achieved
Authors: Chiaki Saita, Risa Goto, Tomoyuki Aruga, Nami Idera, Yayoi Honda, Kazumi Horiguchi, Hiromi Miyamoto, Shinichiro Horiguchi, Toshinari Yamashita, Katsumasa Kuroi
Journal: BMC Res Notes (2016)
MeSH terms: Antineoplastic Agents, Hormonal / therapeutic use, Aromatase Inhibitors / therapeutic use, Breast Neoplasms / therapy, Carcinoma, Papillary / therapy, Nitriles / therapeutic use, Triazoles / therapeutic use, Case Reports, Aged, 80 and over, Breast Neoplasms / genetics, Breast Neoplasms / metabolism, Breast Neoplasms / pathology, Carcinoma, Papillary / genetics, Carcinoma, Papillary / metabolism, Carcinoma, Papillary / pathology, Female, Gene Expression, Humans, Letrozole, Neoadjuvant Therapy / methods, Postmenopause, Receptor, ErbB-2 / genetics, Receptor, ErbB-2 / metabolism, Receptors, Estrogen / genetics, Receptors, Estrogen / metabolism, Receptors, Progesterone / genetics, Receptors, Progesterone / metabolism, Treatment Outcome, Antineoplastic Agents, Hormonal, Aromatase Inhibitors, Nitriles, Receptors, Estrogen, Receptors, Progesterone, Triazoles, Letrozole, ERBB2 protein, human, Receptor, ErbB-2

Background:
Invasive papillary carcinoma is a rare type of invasive ductal carcinoma. Neoadjuvant endocrine therapy is now considered as an optional therapy for postmenopausal women with hormone receptor-positive breast cancers, including invasive papillary carcinoma.
Case presentation:
We discuss the case of an 83-year-old postmenopausal Japanese female with hormone receptor-positive invasive papillary carcinoma who started treatment with an aromatase inhibitor and achieved pathological complete response after 12 months of endocrine treatment.
Conclusion:
Appropriate drugs and durations of neoadjuvant endocrine treatment have yet to be established. Continuing therapy with an aromatase inhibitor until the best clinical response is achieved may represent one of the best strategies in neoadjuvant endocrine therapy.
Early Fetal Growth Restriction of Both Twins in a Transgender Man
Authors: Alicia Martínez-Varea, Clara Martínez-Sáez, María Patrocinio Tarrazó-Millet, Vicente Diago-Almela
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Gender dysphoria affects 0.5% of people worldwide. Transgender men display a divergence between the female genetic sex and the gender male identity. To the best of our knowledge, we describe the first case report with regard to a transgender man with a dichorionic diamniotic twin pregnancy obtained by artificial insemination using donor sperm as a monoparental family, presenting early fetal growth restriction of both twins. The patient is a 35-year-old transgender man who had previously received gender-affirming hormone therapy based on testosterone for five years and had a prior bilateral mastectomy as gender-affirming surgery. Whether assisted reproductive techniques have any influence on obstetrical outcomes among these patients and whether prior long-term intake of gender-affirming hormone therapy has an impact on pregnancy and obstetrical outcomes remain to be elucidated.
Family-Based Treatment for a Preadolescent With Avoidant/Restrictive Food Intake Disorder With Sensory Sensitivity: A Case Report
Authors: Kimberly Rosania, James Lock
Journal: Front Psychiatry (2020)
Keywords: avoidant/restrictive food intake disorder, eating disorders, family based treatment, feeding disorders, treatment
MeSH terms: Case Reports

Background:
Individuals with Avoidant/Restrictive Food Intake Disorder (ARFID) experience eating problems that cause persistent failure to meet appropriate nutritional and/or energy needs. These eating problems are not driven by body image concerns but rather by persistent low appetite, sensory sensitivity, or fear of aversive consequences of eating (e.g., choking or vomiting). Although increasing numbers of youth are being referred for treatment of ARFID, no evidence-based treatments yet exist for the disorder. Given family-based treatment (FBT) has demonstrated effectiveness with other pediatric eating disorders (anorexia nervosa, bulimia nervosa), a manualized version of FBT adapted for use with ARFID patients has been developed and is currently under study.
Case presentation:
The following case report demonstrates how FBT was used to treat a 9-year-old patient with ARFID characterized by sensory sensitivity. Similarities and differences with FBT for anorexia nervosa are illustrated. After 17 sessions across 6 months, the patient no longer met DSM criteria for ARFID, she demonstrated major declines in measures of clinical symptoms, and she gained 2.1 kg.
Conclusions:
FBT for ARFID relies upon the same key interventions as FBT for AN. However, we discuss critical differences in the application of these interventions given the unique challenges of ARFID, particularly when characterized by sensory sensitivity.
An unusual cause of adult onset cerebellar ataxia with hypogonadism
Authors: Ramshekhar N Menon, Nirav Sanghani, Mahendra Javali, Neeraj Jain, Arun B Shah
Journal: Ann Indian Acad Neurol (2009)
Keywords: celiac disease, gluten ataxia, hypogonadism
MeSH terms: Case Reports

We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia.
Post-stroke Depression Increases Disability More Than 15% in Ischemic Stroke Survivors: A Case-Control Study
Authors: Stefano Paolucci, Marco Iosa, Paola Coiro, Vincenzo Venturiero, Anna Savo, Domenico De Angelis, Giovanni Morone
Journal: Front Neurol (2019)
Keywords: antidepressants, depression, functional outcome, rehabilitation, stroke

We performed a retrospective, case-control study in consecutive ischemic stroke patients admitted to our stroke rehabilitation unit. Patients were matched for severity of neurological impairment (evaluated with the Canadian Neurological Scale, CNS), age (difference within 1 year), and onset admission interval (difference within 3 days). Participants were divided into two subgroups according to the presence or absence of PSD. Aim was to assess the specific influence of post-stroke depression (PSD) and antidepressant treatment on both basal functional status and rehabilitation outcomes. All PSD patients were treated primarily with serotoninergic antidepressants (AD). The final sample included 280 patients with depression (out of 320 found in a whole case series of 993 ischemic patients, i.e., 32.25%) and 280 without depression. Forty patients with depression were excluded because they had a history of severe psychiatric illness or aphasia, with a severe comprehension deficit. On one hand, PSD patients obtained lower Barthel Index (BI) and Rivermead Mobility Index (RMI) scores at both admission and discharge, with minor effectiveness of rehabilitative treatment and longer length of stay; on the other hand, this group had a lower percentage of dropouts. Lastly, PSD patients showed a different functional outcome, based on their response to antidepressant therapy, that was significantly better in responders than in non-responders (13.13%). Our results confirm the unfavorable influence of PSD on functional outcome, despite pharmacological treatment.