OpenMed/multicare-articles huggingface dataset:
Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report
Authors: Alba M Herrera-Olivares, Jose A Fernández-Luque, Carmen Paradas, Alejandro Lucia, Alfredo Santalla
Journal: Front Physiol (2019)
Keywords: fatmax, vlcadd, exercise, neuromuscular disorders, training

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare disorder of mitochondrial fatty acid β-oxidation characterized by a spectrum of clinical manifestations. Patients with the adult-onset form can present with muscle pain, rhabdomyolysis and myoglobinuria after physiological stress, such as fasting and exercise. We report on a 23-year-old female patient with a history of recurrent rhabdomyolysis. The patient completed a 6-month supervised combined (high-intensity interval training [HIIT] + resistance training) program, with the addition of a medium chain triglyceride + carbohydrate supplement provided 60 min before each session. The HIIT consisted of 6 sets of 70-80 s performed at maximum intensity with a minimum cadence of 100 rpm. Resistance training consisted of a circuit of basic exercises with dumbbells and elastic bands, with sets of 4-7 repetitions. The patient was evaluated at months 0, 3 and 6 using an incremental discontinuous step protocol, with steps of 1 min of exercise/1 min of passive recovery, at a high pedal cadence. The test started at 10 W, with a load increase of 10 W/step. Blood creatine kinase (CK) concentration was measured before each evaluation. There was a training-induced increment of 90.2% in peak oxygen uptake (VO2peak), 71.4% in peak power output and 24.7% in peak heart rate. The patient reported no muscle pain, contractures, rhabdomyolysis (basal CK concentration was always <200 U/L) or hospital admissions during the training period. After completion of 6-month program, the patient remained active, doing similar but non-supervised training for 1.5 years (to date). During this period, the patient has not reported myalgias, contractures, rhabdomyolysis or hospital admissions. Our preliminary data suggest that it is possible to carry out a combined (HIIT + strength) training program in patients with VLCADD, safely (without muscle contractures or rhabdomyolysis) and obtaining high values of VO2peak and cycling power output.
Ectopic Fetal Liver Tissue in the Placenta of a Twin Pregnancy: A Case Report and Review of Literature
Authors: Andrei Leucă, Pieter Demetter, Amélie Boulay, Katherina Vanden Houte, Valérie Segers, Laurine Verset
Journal: Case Rep Pathol (2022)
MeSH terms: Case Reports

Ectopic liver tissue represents a rare entity and is mostly attributed to events occurring during embryogenesis. Previous case reports documented the presence of fetal liver parenchyma within temporarily developed organs during pregnancy, such as the placenta or the umbilical cord. Moreover, the terminology of these benign findings varies from "ectopic liver" to "hepatocellular adenoma-like neoplasm" or "hepatocellular adenoma". Ancillary tests performed on these lesions have shown positive immunohistochemical staining for hepatocellular origin marker HepPar-1. Only one recent case report comprising molecular analysis showed no beta-catenin gain-of-function mutation. We report a case of ectopic liver in one placenta of a twin pregnancy, with an updated review of literature.
Combined novel homozygous variants in both SGPL1 and STAT 1 presenting with severe combined immune deficiency: case report and literature review
Authors: Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters
Journal: Front Immunol (2023)
Keywords: sgpl1 gene mutation, stat1, case report, ichthyosis, lymphopenia, steroid-resistant nephrotic syndrome (srns)
MeSH terms: Immunologic Deficiency Syndromes, Nephrotic Syndrome / genetics, Severe Combined Immunodeficiency, Case Reports, Research Support, Non-U.S. Gov't, Review, Aldehyde-Lyases / genetics, Aldehyde-Lyases / metabolism, Humans, Infant, Newborn, Janus Kinases / metabolism, STAT Transcription Factors / metabolism, STAT1 Transcription Factor / genetics, STAT1 Transcription Factor / metabolism, Signal Transduction, Aldehyde-Lyases, Janus Kinases, SGPL1 protein, human, STAT Transcription Factors, STAT1 protein, human, STAT1 Transcription Factor

Background:
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in SGPL1, comprising a multisystemic disease characterized by steroid resistant nephrotic syndrome, primary adrenal insufficiency, neurological problems, skin abnormalities and immunodeficiency in described cases. Signal transducer and activator of transcription 1 (STAT1) plays an important role in orchestrating an appropriate immune response through JAK-STAT pathway. Biallelic STAT1 loss of function (LOF) variants lead to STAT1 deficiency with a severe phenotype of immunodeficiency with increased frequency of infections and poor outcome if untreated.
Case presentation:
We report novel homozygous SGPL1 and STAT1 variants in a newborn of Gambian ethnicity with clinical features of SPLIS and severe combined immunodeficiency. The patient presented early in life with nephrotic syndrome, severe respiratory infection requiring ventilation, ichthyosis, and hearing loss, with T-cell lymphopenia. The combination of these two conditions led to severe combined immunodeficiency with inability to clear respiratory tract infections of viral, fungal, and bacterial nature, as well as severe nephrotic syndrome. The child sadly died at 6 weeks of age despite targeted treatments.
Conclusion:
We report the finding of two novel, homozygous variants in SGPL1 and STAT1 in a patient with a severe clinical phenotype and fatal outcome early in life. This case highlights the importance of completing the primary immunodeficiency genetic panel in full to avoid missing a second diagnosis in other patients presenting with similar severe clinical phenotype early in life. For SPLIS no curative treatment is available and more research is needed to investigate different treatment modalities. Hematopoietic stem cell transplantation (HSCT) shows promising results in patients with autosomal recessive STAT1 deficiency. For this patient's family, identification of the dual diagnosis has important implications for future family planning. In addition, future siblings with the familial STAT1 variant can be offered curative treatment with HSCT.
Keeping an Open Mind: Cognitive Bias in the Evaluation of an Infant with Posterior-Lateral Rib Fractures
Authors: Katie Johnson, Donald Chris Derauf, Raymond Stetson, Paul Galardy, Jason Homme
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

A four-month-old former premature male is incidentally found to have posterior-lateral rib fractures during evaluation of a febrile illness. This finding led to the initiation of a workup for nonaccidental trauma. A thorough history and physical exam ultimately led to the diagnosis, which was not related to abuse. This case highlights a rare sequela of patent ductus arteriosus repair, cautions medical teams to remain aware of how cognitive bias can affect diagnostic decision-making, and emphasizes the importance of a thorough history, physical exam, and medical record review in cases of suspected nonaccidental trauma.
Synthetic Mesh Reconstruction of Chronic, Native Quadriceps Tendon Disruptions following Failed Primary Repair
Authors: Braden E Hartline, Jacob M Wilson, Andrew M Schwartz, James R Roberson, George N Guild 3rd
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Case:
Two patients presented with chronic knee extensor mechanism disruption after failed primary repairs. Both patients had minimal ambulatory knee function prior to surgical intervention and were treated with a synthetic mesh reconstruction of their extensor mechanism. Our technique has been modified from previously described techniques used in revision knee arthroplasty. At the one-year follow-up, both patients had improvement in their active range of motion and had returned to their previous activity.
Conclusion:
Synthetic mesh reconstruction of chronic extensor mechanism disruption is a viable technique that can be utilized as salvage for the persistently dysfunctional native knee.
Posterior Reversible Encephalopathy Syndrome With Isolated Involving Infratentorial Structures
Authors: Shuchun Ou, Lu Xia, Li Wang, Li Xia, Qin Zhou, Songqing Pan
Journal: Front Neurol (2018)
Keywords: brainstem, cerebellum, obstructive hydrocephalus, posterior reversible encephalopathy syndrome/hypertensive encephalopathy, spinal cord
MeSH terms: Case Reports

Typical neuroimaging findings of posterior reversible encephalopathy syndrome include symmetrical white matter edema in subcortical white matter of bilateral occipital and parietal lobes, although variations do occur and more and more attention is being focused upon disease of infratentorial-isolated involved posterior reversible encephalopathy syndrome. In this article, we described 1 case of posterior reversible encephalopathy syndrome with isolated infratentorial brain involvement and reviewed the literature to identify an additional 36 cases in the PubMed database. We used various search terms, such as "brainstem/cerebella/spinal posterior reversible encephalopathy syndrome," "brainstem/cerebella/spinal reversible posterior leukoencephalopathy syndrome," "brainstem/cerebella/spinal hypertensive encephalopathy," "infratentorial posterior reversible encephalopathy syndrome," and "posterior reversible encephalopathy syndrome variant." Then, we systematically analyzed the clinical and imaging characteristics of the 37 cases and found that posterior reversible encephalopathy syndrome with isolated involving infratentorial structures predominantly affect male patients compared with typical posterior reversible encephalopathy syndrome. The presence of extremely high blood pressure at onset is essential to the development of infratentorial-isolated involved posterior reversible encephalopathy syndrome. A relatively high rate of hydrocephalus and spinal cord involvement can be a distinctive feature of this kind of variant. Symptoms and outcomes are basically similar to typical posterior reversible encephalopathy syndrome.
A Rare Scrotal Tumor: Epididymal Cavernous Hemangioma
Authors: Omar Karray, Mohamed Ali Ben Chehida, Ahmed Sellami, Kheireddine Mrad Daly, Zied Mahjoubi, Alia Zehani, Sami Ben Rhouma, Yassine Nouira
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Introduction:
Paratesticular tumors are rarely observed among scrotal neoplasm. Various types of benign lesions are described. Cavernous hemangioma belongs to uncommon epididymal benign tumors. Clinical and sonographic features are not conclusive and diagnosis requires histological confirmation.
Case presentation:
Authors report a case of an epididymal hemangioma in a 56-year-old patient, consulting for a painful scrotal swelling. As malignancy was suspected, he underwent inguinal orchiectomy. Histological examination confirmed the diagnosis of cavernous epididymal hemangioma. Clinical and therapeutic aspects of this rare entity are discussed.
Conclusion:
Epididymis is an infrequent location of cavernous hemangioma. Diagnosis is rarely made preoperatively as symptoms and radiological aspects are not specific. Conservative surgery must be attempted once feasible for aesthetic and functional purposes.
Intrahepatic Cholestasis of Pregnancy Leading to Severe Vitamin K Deficiency and Coagulopathy
Authors: Maria Maldonado, Ali Alhousseini, Michael Awadalla, Jay Idler, Robert Welch, Karoline Puder, Manasi Patwardhan, Bernard Gonik
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Intrahepatic cholestasis of pregnancy is seldom associated with significant vitamin K deficiency. We report a case of a 16-year-old primigravid patient at 24 weeks and 3 days of gestation who presented with pruritus, hematuria, and preterm labor. Laboratory work-up showed severe coagulopathy with Prothrombin Time (PT) of 117.8 seconds, International Normalized Ratio (INR) of 10.34, and elevated transaminases suggestive of intrahepatic cholestasis of pregnancy. Her serum vitamin K level was undetectable (<0.1 nMol/L). Initial therapy consisted of intramuscular replacement of vitamin K and administration of fresh frozen plasma. Her hematuria and preterm labor resolved and she was discharged. She presented in active labor and delivered at 27 weeks and 1 day. Her bile acids (93 μ/L) and INR (2.32) had worsened. She delivered a male infant, 1150 grams with Apgar scores 7 and 9. The newborn received 0.5 mg of intramuscular vitamin K shortly after delivery but went on to develop bilateral grade III intraventricular hemorrhages by day 5. Intrahepatic cholestasis in pregnancy and nutrition issues were identified as the main risk factors for the severe coagulopathy of this patient. This case underlines the importance of evaluation of possible severe coagulopathy in patients with intrahepatic cholestasis of pregnancy in order to avoid serious maternal or fetal adverse outcomes.
Primary pyogenic ventriculitis caused by Neisseria meningitidis: case report and review of the literature
Authors: Firza Gronthoud, Ibrahim Hassan, Pippa Newton
Journal: JMM Case Rep (2017)
Keywords: antimicrobial treatment, drainage, headache, neurologic symptoms, pleocytosis, primary pyogenic ventriculitis

Background. Pyogenic ventriculitis is a well-known complication of meningitis, brain abscesses and intraventricular drains. Primary pyogenic ventriculitis is a rare entity and few cases have been described so far. We report the first case of primary pyogenic ventriculitis in an adult caused by Neisseria meningitidis and present an overview of all reported adult primary pyogenic ventriculitis cases in the English literature. Methods. A PubMed search was performed using the terms ependymitis, ventricular empyema, pyocephalus and ventriculitis. Filter was set for adults and English. Articles in which pyogenic ventriculitis was a complication of well-known risk factors were excluded. A total of five cases of primary pyogenic ventriculitis were identified. Results. There were seven adult patients. Only one patient showed signs of meningeal irritation. Four patients had positive blood cultures with Escherichia coli (one patient), methicillin-resistant Staphylococcus aureus (one patient), one patient was bacteraemic with Enterococcus faecalis, Escherichia coli and Peptostreptococcus spp., and N. meningitidis (our patient). In four patients cerebrospinal fluid was sent for culture, which yielded methicillin-sensitive Staphylococcus aureus (one patient), Peptostreptococcus spp. (one patient), Streptococcus intermedius (one patient, identified via 16S PCR) and Listeria monocytogenes (one patient). Cerebrospinal fluid cell count was determined in four patients and showed pleocytosis in all four cases. Ventricular drainage was performed in four patients. Five patients survived. Discussion. We report the first case of pyogenic ventriculitis caused by N. meningitidis. Primary pyogenic ventriculitis is a rare entity with various clinical presentations caused by various bacterial species. Treatment consists of adequate antimicrobial therapy, and ventricular drainage may be necessary.
A recurrent side-changing febrile pleural effusion revealing familial Mediterranean fever: a case report
Authors: Islam Mejri, Asma Saidane, Nouha Boubaker, Samira Mhamdi, Selsabil Daboussi, Chiraz Aichaouia, Zied Moatemri
Journal: Pan Afr Med J (2022)
Keywords: familial mediterranean fever, case report, familial mediterranean fever gene, fever, pleural effusion
MeSH terms: Amyloidosis / diagnosis, Familial Mediterranean Fever / complications, Familial Mediterranean Fever / diagnosis, Familial Mediterranean Fever / drug therapy, Pleural Effusion / diagnosis, Pleural Effusion / etiology, Case Reports, Adult, Colchicine / therapeutic use, Fever / etiology, Humans, Mutation, Colchicine

Familial Mediterranean Fever (FMF), characterized by recurrent polyserositis, is an autosomal recessive disease involving essentially Mediterranean populations. We report the case of a 30-year-old Tunisian military patient complaining of fever and chest pain recurring on board a Navy military vessel, due to side-changing pleural effusion. On landing, a marked improvement of symptoms was noticed. Gene testing was performed when the diagnostic survey ruled out common etiologies, revealing a homozygous mutation of the FMF gene type M680l/M680l. The prescription of colchicine and the exemption from boarding led to the resolution of the symptoms with no recurrence of pleural effusion. Therefore, the diagnosis of FMF should be considered in a context of a recurrent pleural effusion in the youth, with a negative etiological assessment, notably in an ethnic group at risk. Thus, early diagnosis and adequate treatment may prevent the development of secondary amyloidosis, a serious complication of FMF.
Brain Abscess as Severe Presentation of Specific Granule Deficiency
Authors: Maria Leszcynska, Bhumika Patel, Matthew Morrow, Wil Chamizo, Gerald Tuite, David M Berman, Kevin Potthast, Amy P Hsu, Steven M Holland, Jennifer W Leiding
Journal: Front Pediatr (2020)
Keywords: dhr assay, brain abscess in children, neutrophil, phagocyte, specific granule deficiency
MeSH terms: Case Reports

Severe invasive infections such as brain abscess in a child should prompt an immune evaluation. Specific granule deficiency (SGD) is a rare morphologic neutrophil granular defect characterized by reduced granules within neutrophils, absence of granule proteins, and bilobed nuclei. Patients are susceptible to invasive bacterial infections and Candida infections. Mutations in CCAT/enhancer binding protein epsilon (C/EBP-ε) are the most commonly described cause of SGD. The dihydrorhodamine assay is a quantitative and qualitative functional test that determines the oxidative burst and killing potential of neutrophils. Herein, we describe two brothers with specific granule deficiency. The index patient had a history of cellulitis twice in the first year of life and then presented at 13 months age with fever, leukocytosis, and right sided weakness. A large space occupying brain abscess was diagnosed. He underwent surgical drainage and cultures yielded Staphylococcus aureus. This infection prompted his diagnosis. His older brother had also been healthy but too had had several episodes of cellulitis. His brother too was diagnosed with SGD when family genetic screening was performed. Evaluation of the index patient included a peripheral smear that showed absent neutrophil granule presence. Forward and side scatter of whole blood via flow cytometry revealed a loss of granularity of neutrophils. A DHR was performed to rule out functional killing defects. After stimulation with PMA, neutrophils from the index patient displayed three distinct patterns, two with abnormal oxidase production, and two with reduced function. Both patients were ultimately diagnosed with SGD and remain on lifelong anti-bacterial prophylaxis. Diagnosis of SGD relies on establishing reduced or absent granularity within neutrophils. Lifelong anti-bacterial and anti-fungal prophylaxis is indicated. Hematopoietic cell transplantation has also been curative.
Epidural abscess caused by Streptococcus milleri in a pregnant woman
Authors: Russell Lampen, Gonzalo Bearman
Journal: BMC Infect Dis (2005)
MeSH terms: Epidural Abscess / microbiology, Streptococcal Infections / microbiology, Streptococcus milleri Group / physiology, Case Reports, Adult, Anti-Bacterial Agents / therapeutic use, Ceftriaxone / therapeutic use, Epidural Abscess / diagnosis, Epidural Abscess / drug therapy, Epidural Abscess / surgery, Female, Humans, Pregnancy, Streptococcal Infections / diagnosis, Streptococcal Infections / drug therapy, Streptococcal Infections / surgery, Streptococcus milleri Group / isolation & purification, Anti-Bacterial Agents, Ceftriaxone

Background:
Bacteria in the Streptococcus milleri group (S. anginosus, S. constellatus, and S. intermedius) are associated with bacteremia and abscess formation. While most reports of Streptococcus milleri group (SMG) infection occur in patients with underlying medical conditions, SMG infections during pregnancy have been documented. However, SMG infections in pregnant women are associated with either neonatal or maternal puerperal sepsis. Albeit rare, S. milleri spinal-epidural abscess in pregnancy has been reported, always as a complication of spinal-epidural anesthesia. We report a case of spinal-epidural abscess caused by SMG in a young, pregnant woman without an antecedent history of spinal epidural anesthesia and without any underlying risk factors for invasive streptococcal disease.
Case presentation:
A 25 year old pregnant woman developed neurological symptoms consistent with spinal cord compression at 20 weeks gestation. She underwent emergency laminectomy for decompression and was treated with ceftriaxone 2 gm IV daily for 28 days. She was ambulatory at the time of discharge from the inpatient rehabilitation unit with residual lower extremity weakness.
Conclusion:
To our knowledge, this is the first reported case of a Streptococcus milleri epidural abscess in a healthy, pregnant woman with no history of epidural anesthesia or invasive procedures. This report adds to the body of literature on SMG invasive infections. Treatment of SMG spinal-epidural abscess with neurologic manifestations should include prompt and aggressive surgical decompression coupled with targeted anti-infective therapy.
Use of intranasal esketamine in a girl with treatment-resistant depression and autism spectrum disorders: a case report
Authors: Miriam Olivola, Vincenzo Arienti, Nicola Bassetti, Serena Civardi, Natascia Brondino
Journal: EXCLI J (2022)
Keywords: autism spectrum disorders, depression, esketamine, treatment-resistant
MeSH terms: Case Reports

Major depression is a common comorbidity in autism spectrum disorder (ASD), often difficult to identify and to treat. Autistic subjects are more at risk for suicidal thoughts and behaviors compared to typically developing peers. Unfortunately, ASD individuals are more frequently treatment-resistant and often show side-effects which reduce efficacy. Intranasal esketamine has been recently approved as an add-on medication for treatment-resistant depression (TRD), but it has never been used in ASD with comorbid major depression. Of note, a pilot study of intranasal ketamine has shown no effect on social withdrawal in ASD without depression. The present case report describes the first girl with ASD and comorbid TRD treated with intranasal esketamine.