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Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
Ali, SM, AlMasri, DA, Prada, CE, Lin, D, Bosley, TM, Kozak, I
Molecular genetics & genomic medicine. 2024;(1):e2329
Abstract
PURPOSE To describe clinical and ocular abnormalities in a case of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). METHODS A clinical report. CASE DESCRIPTION An infant born to a consanguineous Middle Eastern family who was delivered by cesarean section because of in utero growth restriction, premature labor, and breech presentation. Post-partum medical problems included hypotension, generalized hypotonia, bradycardia, apnea requiring resuscitation and positive pressure ventilation, facial dysmorphia, skeletal malformations, and disorders of the gastrointestinal, immune, urinary, respiratory, cardiac, and visual systems. The family reported that a previous child had severe hypotonia at birth and was given the diagnosis of hypoxic ischemic encephalopathy; that child remains on a ventilator in a chronic care facility. Our patient was found to be homozygous for a novel pathogenic missense variant in theZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). We review this variable syndrome, including abnormalities of the visual system not described previously. CONCLUSIONS We describe the 15th child to be presumably identified with the DEGCAGS syndrome and the first individual with homozygous missense variants in the ZNF699 gene who had complete clinical examination and detailed retinal imaging.
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IgG4-related disease presenting as severely symptomatic hypercalcemia: A case report and review of literature.
Han, P, Sun, C, Yan, J
International journal of rheumatic diseases. 2024;(1):e14760
Abstract
Immunoglobulin G4-related disease (IgG4-RD)-associated hypercalcemia has rarely been reported. We report a case of IgG4-RD that presented as severe symptomatic hypercalcemia. A 50-year-old woman with a history of sustained bilateral periorbital swelling and proptosis for more than 5 years presented to our hospital complaining of a 3-day history of significant and progressive nausea, vomiting, loss of appetite, fatigue, and pruritus. She denied a long history of medication. On admission, laboratory tests showed severe hypercalcemia with serum adjusted calcium elevated to 4.34 mmol/L and renal dysfunction with serum creatinine elevated to 206 μmol/L. Urinary calcium excretion was increased. The serum IgG4 subclass was markedly elevated to 22.4 g/L with polyclonal hypergammaglobulinemia. Tests of autoantibodies were all negative. Bone metabolism markers that reflect the activity of osteoblasts and osteoclasts were all significantly elevated. However, the levels of intact parathyroid hormone and 25(OH) vitamin D3 were decreased. B-ultrasonography showed chronic inflammation of bilateral submandibular glands. Neither bone marrow biopsy nor positron emission tomography - computed tomography examination showed evidence of neoplastic diseases. The patient was treated with intravenous saline infusion, loop diuretics, salmon calcitonin, glucocorticoids, and hemodialysis with a good response.
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Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.
Hall, CHT, de Zoeten, EF
Immunological reviews. 2024;(1):329-338
Abstract
Inflammatory bowel diseases (IBD) are multifactorial diseases which are caused by the combination of genetic predisposition, exposure factors (environmental and dietary), immune status, and dysbiosis. IBD is a disease which presents at any age, ranging from newborns to the elderly. The youngest of the pediatric IBD population have a more unique presentation and clinical course and may have a different etiology. Very early onset IBD (VEOIBD) patients, designated as those diagnosed prior the age of 6, have distinct features which are more frequent in this patient population including increased incidence of monogenetic causes for IBD (0%-33% depending on the study). This proportion is increased in the youngest subsets, which is diagnosed prior to the age of 2. To date, there are approximately 80 monogenic causes of VEOIBD that have been identified and published. Many of these monogenic causes are inborn errors of immunity yet the majority of VEOIBD patients do not have an identifiable genetic cause for their disease. In this review, we will focus on the clinical presentation, evaluation, and monogenic categories which have been associated with VEOIBD including (1) Epithelial cell defects (2) Adaptive immune defects, (3) Innate Immune/Bacterial Clearance and Recognition defects, and (4) Hyperinflammatory and autoinflammatory disorders. We will highlight differential diagnosis of VEOIBD presentations, as well as evaluation and treatment, which will be helpful for those who study and care for VEOIBD patients outside of the pediatric gastroenterology field. This is a fast-moving field of research which has grown significantly based on knowledge that we gain from our patients. These scientific findings have identified novel mucosal biology pathways and will continue to inform our understanding of gastrointestinal biology.
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Delayed low-dose methotrexate excretion in a rheumatoid arthritis patient: A case report and literature review.
Yan, Q, Lei, H, Gong, T, Liu, R, Liu, X
Medicine. 2024;(4):e37070
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Abstract
RATIONALE Low-dose methotrexate has a relatively good safety profile. However, in cases where patients with multiple risk factors, a delayed excretion has been observed, resulting in the occurrence of severe adverse reactions. It is necessary to supervise and intervene throughout the entire process of treating patients with multiple risk factors for methotrexate, and to strengthen the rational application of methotrexate. PATIENT CONCERNS AND DIAGNOSES A 66-year-old male patient was admitted to our hospital with rheumatoid arthritis and underlying conditions such as chronic obstructive pulmonary disease (COPD). This patient received treatment with low-dose MTX (10 mg/week) and experienced adverse reactions including anemia. He was diagnosed with methotrexate-induced bone marrow suppression. INTERVENTIONS AND OUTCOMES The therapeutic drug monitoring revealed that the serum drug concentration of methotrexate was at a critical level and the patient was rescue with calcium folinate and other adjuvant therapy such as transfusions of red blood cells, plasma, platelets, oral Yixuesheng tablets and Leucogen tablets. We conducted a 1-month follow-up, and there was no recurrence of bone marrow suppression and anemia. LESSONS To ensure rational administration of methotrexate, it is important to fully evaluate the clinical manifestations and physical condition of patients and regularly detecting the serum drug concentration of methotrexate when patients with multiple risk factors, Otherwise, even low-dose methotrexate administration may cause delayed excretion, resulting in severe adverse reactions.
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Methotrexate-induced Severe Pancytopenia in a Patient with Rheumatoid Arthritis: A Case Report and Review of Literature.
Hosseini, E, Shahbazi, F
Current drug safety. 2024;(2):224-235
Abstract
Toxicity associated with low doses of methotrexate (MTX) is low, but it may be fatal. Bone marrow suppression and mucositis are among the common side effects of low dose MTX toxicity. Different risk factors have been reported for toxicities associated with low doses of MTX, including accidental use of higher doses, renal dysfunction, hypoalbuminemia, and polypharmacy. In this paper, we present a female patient who had mistakenly used 7.5 mg of MTX daily instead of the same dose of MTX on Thursday and Friday. She was presented with mucositis and diarrhea to the emergency department. Moreover, we searched the databases Scopus and PubMed for available studies and case reports on toxicities associated with MTX dosing errors. The most frequently observed toxicities included gastrointestinal lesions, nausea, vomiting, skin lesions, and bone marrow suppression. Leucovorin, hydration, and urine alkalinization were among the most frequently used treatments. Finally, we summarize the data on the toxicities of low doses of MTX in different diseases.
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Apathetic Graves' disease with severe hepatic and renal dysfunction induced by COVID-19 infection: Case report and literature review.
Deng, L, Zhang, Y, Sun, H
Medicine. 2024;(11):e37456
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RATIONALE A rare and intractable case of apathetic Graves' disease (GD) with severe liver and kidney damage induced by coronavirus disease 2019 (COVID-19) carries a certain risk of missing diagnosis and delayed treatment during the COVID-19 pandemic. PATIENT CONCERN A 60-year-old female patient developed anorexia, exhaustion, jaundice, nausea, and vomiting 10 days after COVID-19 infection. She was admitted to the Infectious Diseases Department because of recurring symptoms for more than a month. DIAGNOSIS Based on the patient's epidemiological history, clinical symptoms, and prior history, she was preliminarily diagnosed with GD induced by COVID-19 with severe hyperthyroid-related liver injury and chronic kidney disease stage 4. Drug-induced and radiation-induced liver injuries occurred sequentially throughout the therapy. INTERVENTION Methimazole (MMI) (10 mg/d) was administered for 1 week, and the patient's symptoms, thyroid function, and liver and kidney function improved. Nevertheless, the aforementioned symptoms and liver and kidney function deteriorated 20 days after increasing the MMI dose (20 mg/d). Therefore, in the presence of an artificial liver, hemodialysis, and other medical conditions, the treatment schedule was adjusted to individualized 131I anti-hyperthyroidism therapy. OUTCOME After 131I treatment, the patient's liver function returned to almost normal levels after a month, but worsened when the hepatoprotective drugs were stopped. Renal function did not deteriorate significantly and returned to baseline after 3 months. Thyroid function was restored to normal approximately 4 months later. CONCLUSION COVID-19 may induce GD. Multidisciplinary collaboration can be initiated as early as possible. Individualized 131I therapy or long-term low-dose MMI (10 mg/d) can be considered to manage hyperthyroidism in GD patients with liver and kidney dysfunction and to prolong liver protection therapy appropriately.
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Whole-Body Cryostimulation as an Adjunctive Treatment for Neurophysiologic Tinnitus and Associated Disorders: Preliminary Evidence from a Case Study.
Piterà, P, Cremascoli, R, Alito, A, Bianchi, L, Galli, F, Verme, F, Fontana, JM, Bigoni, M, Priano, L, Mauro, A, et al
Journal of clinical medicine. 2024;(4)
Abstract
BACKGROUND Tinnitus, which is often associated with reduced quality of life, depression, and sleep disturbances, lacks a definitive treatment targeting its pathophysiological mechanism. Inflammatory markers like TNF-α have been linked to tinnitus, thereby underlining the necessity for innovative therapies. This case study investigates the potential benefits of a multi-approach rehabilitation intervention involving whole-body cryostimulation (WBC) for a 47-year-old male suffering from chronic neurophysiologic tinnitus, who had underwent various unsuccessful treatments from 2005. METHODS the patient underwent a personalized, multidisciplinary rehabilitation intervention covering diet, pharmacotherapy, physiotherapy and physical activity classes tailored to the patient's needs and capacities, repetitive transcranial magnetic stimulation (rTMS), and whole-body cryostimulation (WBC). RESULTS The adjunctive WBC intervention resulted in a significant progressive improvement in tinnitus severity (tinnitus handicap inventory Δ% = -46.3%, VAS tinnitus score Δ% = -40%). Additional positive outcomes were noted in sleep quality (PSQI Δ% = -41.67%), emotional wellbeing (BDI Δ% = -41.2%), and quality of life (SF-36, WHO-5 Δ% = +16.5). CONCLUSIONS This study supports the existing literature suggesting the potential of WBC as an adjunct in a multi-approach intervention in ameliorating tinnitus severity and tinnitus-associated disorders. However, randomized controlled trials in larger populations, which specifically consider WBC's effects on tinnitus, are necessary to confirm these findings and to explore the mechanisms that underlie the observed improvements.
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Abnormal bleeding after lumbar vertebrae surgery because of acquired factor XIII deficiency: A case report and literature review.
Zhang, P, Zhang, R, Jing, C
Medicine. 2024;(2):e36944
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RATIONALE Abnormal bleeding due to low fibrinogen (Fib) and coagulation factor XIII (FXIII) levels after lumbar vertebral surgery is exceedingly rare. Excessive bleeding is also associated with secondary hyperfibrinolysis. This report presents a case of abnormal incision bleeding caused by coagulation factor XIII deficiency (FXIIID) and secondary hyperfibrinolysis in a state of low fibrinogen after lumbar vertebral surgery. PATIENT CONCERNS A middle-aged woman experienced prolonged incision and excessive bleeding after lumbar vertebral surgery. DIAGNOSIS Combined with coagulation factors, coagulation function tests, and thromboelastography, the patient clinical presentation supported the diagnosis of FXIIID and secondary hyperfibrinolysis in a hypofibrinogenemic state. INTERVENTIONS Cryoprecipitat, Fresh Frozen Plasma, Fibrinogen Concentrate, Leukocyte-depleted Red Blood Cells, Hemostatic (Carbazochrome Sodium Sulfonate; Hemocoagulase Bothrops Atrox for Injection; Tranexamic Acid). OUTCOMES After approximately a month of replacement therapy and symptom treatment, the patient coagulation function significantly improved, and the incision healed without any hemorrhage during follow-up. LESSONS Abnormal postoperative bleeding may indicate coagulation and fibrinolysis disorders that require a full set of coagulation tests, particularly coagulation factors. Given the current lack of a comprehensive approach to detect coagulation and fibrinolysis functions, a more comprehensive understanding of hematology is imperative. The current treatment for FXIIID involves replacement therapy, which requires supplementation with both Fib and FXIII to achieve effective hemostasis.
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Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum.
Han, D, Wang, L, Zhao, C, Li, J, Huang, C, Song, W, Wang, H, Li, X, Tao, Y
Molecular genetics & genomic medicine. 2024;(1):e2298
Abstract
BACKGROUND Hereditary tyrosinemia type III (HT III) is an extremely rare form of tyrosinemia, characterized by autosomal recessive inheritance and biallelic mutations in the HPD gene. The clinical presentation of HT III is variable and poorly understood, with symptoms ranging from developmental delay and intellectual impairment to seizures and intermittent ataxia. This study aimed to provide further insights into the clinical and genetic characteristics of HT III. METHODS A 3-year-old girl, identified through newborn screening, was diagnosed with HT III using targeted next-generation sequencing. A comprehensive literature review was conducted, and the clinical, biochemical, and genetic findings of previously reported HT III patients were summarized and analyzed. RESULTS The genetic analysis of the proband revealed compound heterozygous mutations in the HPD gene such as c.731C>T (p.A244V) and c.656C>T (p.T219M). Notably, the HPD p.A244V mutation had not been previously documented in public databases or the scientific literature. Bioinformatics analysis classified both variants as pathogenic variants. The patient exhibited persistent tyrosinemia, elevated levels of related metabolite derivatives, confirming the diagnosis of HT III. The review of previously published cases contributed to a better understanding of the clinical and genetic characteristics associated with HT III. CONCLUSION Early diagnosis and prompt treatment in infancy are crucial for managing HT III effectively. Dietary therapy, particularly during childhood, plays a significant role in disease management. The findings from this study enhance our understanding of the genotype-phenotype associations in HT III and emphasize the importance of early intervention for improved patient outcomes.
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Post-transfusion severe headache in a patient with thalassemia with superficial siderosis of the central nervous system: a case report and literature review.
Liu, X, Jiang, H, Ren, L, Cao, L
BMC neurology. 2024;(1):21
Abstract
BACKGROUND Patients with severe thalassemia may experience adverse effects from transfusion such as fever, rash, and iron overload after long-term transfusion therapy. Severe headaches as a side effect of blood transfusion in patients with thalassemia are not commonly observed, especially when combined with superficial siderosis of the central nervous system, which is easily misdiagnosed and requires excessive examination and treatment. CASE PRESENTATION A 31-year-old woman was admitted with severe headache and vomiting over 3 days following blood transfusion. She was diagnosed with intermediate α-thalassemia at 2 years of age and had a history of irregular blood transfusions. Physical examination revealed horizontal nystagmus with no other abnormal neurological signs. Magnetic resonance (MR) imaging, MR venography, MR arteriography, and cerebrospinal fluid analysis were normal. However, susceptibility-weighted imaging showed abnormal signals in the bilateral and fourth ventricles. Initial antibiotics, antivirals, decompression of intracranial pressure, iron chelation, and symptomatic treatments were administered; subsequently, small intermittent blood transfusions were cautiously administered for severe anemia. The patient's headache was gradually relieved, and she was discharged on day 9. At the 5-month follow-up, the patient's headache recurred following another transfusion. CONCLUSIONS Severe post-transfusion headache in patients with thalassemia has not been fully recognized and is easily misdiagnosed, leading to excessive examination and treatment. Understanding the clinical features of transfusion-related headaches can help identify this complication, but the exact pathophysiological mechanism requires further research.