A Previously Healthy Teenager with Anasarca.
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ABSTRACT:
SUBMITTER: Berger JH
PROVIDER: S-EPMC8034987 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Hydrops foetalis is defined as excessive fluid accumulation within the foetal extravascular compartments and body cavities. It has been described in human and veterinary medicine, but despite several descriptive studies its aetiology is still not fully clarified. Pulmonary hypoplasia and anasarca (PHA) syndrome is a rare congenital abnormality in cattle that is characterised by hydrops foetalis including extreme subcutaneous oedema (anasarca) and undeveloped or poorly formed lungs (pulmonary hypoplasia). Until now, sporadic cases of PHA were reported in cattle breeds like Australian Dexter, Belted Galloway, Maine-Anjou, and Shorthorn. This report describes the first known cases of PHA syndrome in Slovenian Cika cattle.A 13-year-old cow aborted a male calf in the seventh month of pregnancy, while a male calf was delivered by caesarean section on the due date from a 14-year-old cow. The pedigree analysis showed that the calves were sired by the same bull, the dams were paternal half-sisters and the second calf was the product of a dam-son mating. Gross lesions were similar in both cases and characterized by severe anasarca, hydrothorax, hydropericardium, ascites, hypoplastic lungs, absence of lymph nodes, and an enlarged heart. The first calf was also athymic. Histopathology of the second affected calf confirmed severe oedema of the subcutis and interstitium of the organs, and pulmonary hypoplasia. The lymph vessels in the subcutis and other organs were severely dilated. Histopathology of the second calf revealed also lack of bronchus associated lymphoid tissue and adrenal gland hypoplasia.The findings were consistent with known forms of the bovine PHA syndrome. This is the first report of the PHA syndrome occurring in the local endangered breed of Cika cattle. Observed inbreeding practice supports that this lethal defect most likely follows an autosomal recessive mode of inheritance. In the light of the disease phenotype it is assumed that a mutation causing an impaired development of lymph vessels is responsible for the hydrops foetalis associated malformations in bovine PHA.
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| S-EPMC9628714 | biostudies-literature
Project description:BackgroundMycoplasma hominis is a fastidious micro-organism causing systemic infections in the neonate and genital infections in the adult. It can also be the cause of serious extra-genital infections, mainly in immunosuppressed or predisposed subjects.Case presentationWe describe a case of severe pneumonia and pericarditis due to Mycoplasma hominis in a previously healthy adolescent who did not respond to initial therapy.ConclusionsMycoplasma hominis could be an underestimated cause of severe pneumonia in immunocompetent patients and should be particularly suspected in those not responding to standard therapy.
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Project description:Due to the coronavirus disease 2019 restrictions in providing diabetes services, we have developed an innovative pump training program, which consisted of technical session, pump training, one in-person practical session, and four consecutive online sessions (Skype Meet Now).A 13-year-old female patient with a 4-year history of type 1 diabetes (T1D) on multiple daily injections (MDI) with glycated hemoglobin 8.9%; 74 mmol/mol) initiated Minimed 670G system using the program. Time in range (70-180 mg/dL) of 39% and sensor glucose (SG) of 214±91 mg/dL (MDI with continuous glucose monitoring) increased to 69% in the first 2 weeks and reached 86% and SG of 140±40 mg/dL in the first month of auto mode initiation, without severe hypoglycemia or hyperglycemia. Virtual pump training program can be an effective tool to initiate a hybrid closed-loop system and to improve glycemic control in people with T1D on MDI.
| S-EPMC8564223 | biostudies-literature
Project description:A 13-year-old boy presented with a 5-day history of left-sided limp of gradual onset. There was no history of trauma. He developed a fever and rigours a few days before presenting to the paediatric emergency department. On examination, he was tender on palpating the left gluteal area on active mobilisation of the left hip and could not weight bear on the left leg. Pelvic X-rays and ultrasound of the left hip were normal. The blood results showed raised inflammatory markers and normal white cell count. The blood cultures were positive for Staphylococcus aureus. On day 2, a left hip MRI was performed as well as CT-guided drainage. Diagnosis of left sacroiliac septic arthritis was made. After an initial lack of improvement under intravenous ceftriaxone, a drain was inserted and left in situ for 8 days with double intravenous antibiotic therapy instituted. The patient made a full recovery.
| S-EPMC4550926 | biostudies-other
Project description:Introduction Herpetic Esophagitis is caused by the Herpes Simplex virus, which generally affects immunocompromised individuals and is rarely seen in healthy individuals. Symptoms are usually self-limiting. Case presentation We report the case of a 68-year-old female who presented with odynophagia, dysphagia, and epigastric pain with no other underlying disease. Endoscopic findings of soft, nodular, and friable growths just above the squamocolumnar junction with diffuse ulcerations in the distal esophagus, led to the diagnosis. It was confirmed with a histopathological report which revealed multinucleated giant cells with eosinophilic intranuclear inclusions. During follow-up, laboratory investigations revealed iron deficiency anemia, which was the consequence of GI bleeding. Clinical discussion Herpes Simplex virus esophagitis can occur in immunocompetent individuals and even it can cause food impaction and GI bleeding, which can lead to Iron deficiency anemia. Conclusion Hence, follow-up of patients is important for early diagnosis and intervention of any complications that may arise. Highlights • Herpetic Esophagitis is caused by Herpes Simplex virus, which generally affects immunocompromised individuals but can also affect immunocompetent individuals.• Patients usually present with odynophagia and dysphagia due to mucosal erosion and ulceration in the esophagus.• Diagnosis is usually established with an upper endoscopy and confirmed by a biopsy of the lesion. Acyclovir is highly beneficial for a symptomatic response.• Patients must be assessed timely and follow-up is very crucial. Otherwise, even in immunocompetent patients, complications like GI bleeding resulting in Iron deficiency Anemia may occur. Early intervention with symptomatic management is required for the complications if present.
| S-EPMC9793130 | biostudies-literature
Project description:Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected patients often remain asymptomatic, and it is likely that environmental and genetic factors influence disease penetrance and expression. Here, we present our investigation of a patient with late-onset presentation, and we emphasize the potential role of environmental and genetic factors on disease expression. The patient was a previously healthy 62-year-old man who developed mental slowing, refractory seizures, and coma over an 8-day period. Interestingly, the patient had recently used home gardening fertilizers and pesticides. Evaluations for drug and alcohol use, infections, and liver disease were negative. Despite aggressive therapy, blood NH(3) concentration peaked at 2,050 muM and the patient died from cerebral edema and cerebellar herniation. Analysis of the OTC gene showed a Pro-225-Thr (P225T) change in exon 7, a mutation that has been previously implicated in OTC deficiency. This case illustrates that OTC deficiency can cause acute, severe hyperammonemia in a previously healthy adult and that the P225T mutation can be associated with late-onset OTC deficiency. We speculate that exposure to organic chemicals might have contributed to the onset of symptoms in this patient. This case also emphasizes that persistent hyperammonemia may cause irreversible neurologic damage and that after the diagnosis of hyperammonemia is established in an acutely ill patient, certain diagnostic tests should be performed to differentiate between urea cycle disorders and other causes of hyperammonemic encephalopathy.
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Project description:Cryptococcal meningitis (CM) is a global disease with significant morbidity and mortality. Although low peripheral blood cluster of differentiation 4 (CD4) cell counts are found to be related to a high burden of cryptococcus in HIV-infected patients, little is known about possible immune defects in previously healthy patients (PHPs). We performed a retrospective study of 41 CM patients treated from January 2005 to December 2014 who did not have HIV-infection. There were 33 PHPs and 8 not previously healthy patients (non-PHPs). We analyzed clinical test data pertaining to peripheral blood T cells, antibodies, inflammation markers, and cerebral spinal fluid (CSF) completed during the disease onset phase and 5 years following diagnosis. PHPs had significantly higher counts of cluster of differentiation 3 (CD3), cluster of differentiation 4 (CD4), and cluster of differentiation 45 (CD45) cells, and lower percentages of CD8 cells than non-PHPs (P < 0.05). Measurements of inflammatory markers and immunoglobulin in blood were comparable except for lower immunoglobulin A (IgA) levels in non-PHPs (P = 0.0410). Examination of CSF revealed lower white blood cell (WBC) counts in non-PHPs. Five-year mortality in PHPs was higher than in non-PHPs (22.0% vs 12.5%) but this was not statistically significant (P > 0.05). Multivariate analysis revealed that higher immunoglobulin G (IgG) levels in serum during disease onset may be an independent predictor of mortality (P = 0.015). In conclusion, PHPs demonstrate an immunophenotype that is distinct from that of non-PHPs, leading to an improved understanding of the immunology of cryptococcal meningitis.
| S-EPMC4753916 | biostudies-literature
Project description:The morbidity and mortality of cryptococcal meningoencephalitis (CM) in previously healthy, HIV-negative individuals is increasingly recognized. We administered a healthcare associated quality of life (QOL) survey to the largest longitudinally followed cohort of these patients in the United States. We identified moderate or severe self-reported impairment in at least one QOL domain in 61% of subjects at least one year following diagnosis. Self-reported cognitive impairment was noted in 52% and sleep disturbance was noted in 55%. This is the first comprehensive study of cross-sectional long-term QOL in previously healthy patients following cryptococcal infection.
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Project description:BackgroundThe reports on disseminated candidiasis in dogs so far describe at least one predisposing factor. This case report, however, highlights candidiasis in a dog without any known predisposition.PatientA 1.5-year-old intact female Hovawart dog was presented with subcutaneous nodules and polyuria/polydipsia. An excisional biopsy revealed a chronic pyogranulomatous and necrotizing inflammation with mycotic structures. The patient became febrile and lethargic, and developed lameness.MethodsA physical examination, blood tests, urinalysis, thoracic radiographs, abdominal ultrasonography of the abdomen, fine-needle aspiration biopsies, and a culture of a subcutaneous nodule aspirate were obtained. Selected sections of multiple organs were collected for routine histology postmortem. The isolate and a subcutaneous mass were subjected to molecular identification and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) analysis.ResultsClinical, laboratory, and radiological findings were consistent with a granulomatous chronic systemic inflammation. Cytology and histology showed a pyogranulomatous and necrotizing inflammation with myriads of intra- and extra-cellular yeasts and extracellular hyphae. Culture yielded numerous yeast colonies, which appeared Candida albicans-like, but showed a negative serum test and a low identification in API 20 C AUX. Nucleic acid sequences showed homology with the C. albicans-type strain CBS 562. Multilocus sequence typing (MLST) resulted in a new type with designation DST121. The identification of the isolates was confirmed by MALDI-TOF-MS analysis.Conclusion and clinical importanceFuture MLST typing and investigation of virulence can provide further evidence whether this MLST-type is associated with clinical cases of disseminated candidiasis without an apparent predisposing condition.
| S-EPMC5425501 | biostudies-literature