Clinical Manifestation Of Type Research Articles

Comparative assessment of clinical and endoscopic semiotics of hiatal hernias

A hiatal hernia (HH) of type III combines the anatomical characteristics of HH types I and II. The manifestations of type III HHs are diverse, and they can originate from either type I or type II, but so far, there is no certainty regarding the correlation between the clinical and endoscopic manifestations of HH type III and its origin.
 Objective — Based on the analysis of clinical and endoscopic manifestations of type III HH, justify the diversity of their characteristics depending on whether they originate from type I or type II HH.
 Materials and methods. The study included 126 patients with HH, including 87 type III hernias and 39 type I hernias, who underwent elective laparoscopic hernioplasty. The study consisted of several steps. In the first step, an assessment of the results of endoscopic examination in patients with type III HH was conducted to determine the diversity of the obtained data and the feasibility of dividing patients into subgroups using a two‑stage cluster analysis. In the second step, the subgroups obtained through cluster analysis were compared between themselves and with the patients with type I HH to determine the similarities or differences in endoscopic findings and clinical symptoms.
 Results. Cluster analysis identified two clusters of indicators with a strong degree of association and differentiation. The main factor in the differentiation into clusters was the relationship between the gastroesophageal junction (GEJ) and the upper border of the HS (hernia sac) in an inversion. Based on this criterion, type III HH can be divided into two subgroups: type IIIA, where the GEJ is located proximally or at the same level as the highest point of the HS, and type IIIB, where the GEJ is located distally to the highest point of the HS. The occurrence of most endoscopic symptoms of HH in subgroup IIIA, in contrast to IIIB, did not significantly differ from type I HH, except for the shorter length of the esophagus and the greater axial length of the hernia. Additionally, patients with the IIIA HH subtype were almost indistinguishable from those with type I HH in terms of clinical characteristics, except for a higher average age and the occurrence of dyspnea. In subtype IIIB, compared to type I, symptoms related to gastroesophageal reflux were significantly less frequent, while symptoms indicative of impaired food evacuation were more frequent. The observed similarity between the endoscopic and clinical manifestations of type I and subtype IIIA HH suggests a common origin for these conditions. On the other hand, subtype IIIB, which differs in endoscopic and clinical indicators from type I and subtype IIIA HH, is evidently the result of the progression of type II HH.
 Conclusions. Patients with type III HH exhibit significant diversity in clinical and endoscopic manifestations, which is attributed to the different origins of the HH (from type I or type II). An endoscopic feature indicating the hernia’s origin is the position of the GEJ relative to the highest point of the HS: below it corresponds to type II HH (62.1%), while at or above it corresponds to type I HH (37.9%).

Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the <i>MYH8</i> gene

Distal arthrogryposis is a group of genetically heterogeneous congenital diseases characterized by non-progressive contractures predominantly distal joints of the upper and lower extremities. 11 genes have been identified as pathogenic variants causing the occurrence of autosomal dominant and autosomal recessive types of distal arthrogryposis. Almost all products of these genes are expressed in the structures of the neuromuscular system, which makes it possible to classify distal arthrogryposis as a neuromuscular disease. Type 7 distal arthrogryposis is a rare autosomal dominant disease characterized by two main symptoms: mandibular trismus and pseudocamptodactyly, a specific symptom of limited mobility of the interphalangeal joints during hand dorsiflexion with no restriction during palmar flexion. In all patients described in the literature from different populations with type 7 distal arthrogryposis, the same pathogenic variant c.2021G>A(p.Arg674Gln) was found in the MYH8 gene, the protein product of which is one of the myosin isoforms functioning in the embryonic period and providing the formation of muscle fiber structures.The aim of the work is to describe the clinical and genetic characteristics of the first family case of type 7 distal arthrogryposis in Russian patients. The patients underwent clinical examination and electromyography. Exome sequencing after DNA isolation from the proband’s blood according to the standard method was carried out on the NextSeq 500 platform (Illumina, USA) using the pairedend reading method (2 × 75 bp). Confirmation of the pathogenicity of the identified variants was carried out using automatic Sanger sequencing.As a result of molecular genetic analysis in a father and son with clinical manifestations of type 7 distal arthrogryposis, a heterozygous c.2021G>A variant in exon 18 of the MYH8 gene, which was previously described in all patients published in the literature, was detected, leading to the replacement of p.Arg674Gln(NM_002472.2) in a protein molecule. The examined patients did not reveal focal neurological symptoms, as well as minor developmental abnomalities, pathology of internal organs, ulnar deviations, equinovarus feet deformities, vertical orientation of the talus, contractures of the hip joints, which were found with varying frequency in previously described patients with variants in the MYH8 gene. Specific clinical signs of type 7 distal arthrogryposis, combined with the presence of a major nucleotide variant, make it possible to optimize the process of molecular genetic diagnosis of this type of hereditary arthrogryposis.

Effect of Chia Seed Extract (Salvia Hispanica L) On Current Blood Sugar Levels and MDA Levels

Hyperglycemia is a condition in which the body experiences an increase in blood sugar levels and is a clinical manifestation of type 2 DM which will increase ROS so that an antioxidant imbalance occurs which results in oxidative stress, one of the biomarkers, namely MDA. Chia seeds contain high antioxidants so that they are effective in reducing oxidative stress caused by hyperglycemia in type 2 diabetes. The research study was to prove the effect of chia seed extract on GDS and MDA levels in DMT2 rats with STZ injection. The metods is experimental research with Posttest Only Control Group Design. The number of samples was 25 male wistar rats aged 3-4 months with a weight of 180-200 grams and adapted for 7 days, divided into 5 groups randomly, namely the treatment group P0 as a control, P1 as a positive control, P2 as a negative control, and P3 as a control group. STZ injection and chia seed extract at a dose of 4.5 mg/KgBW/day, P4 for STZ injection and chia seed extract at a dose of 13.5 mg/KgBW/day. Treatment time is 7 days. Blood samples were taken from v. Ophtalmica on day 14. Examination of GDS levels using the ELISA method and examination of MDA levels using the TBARS method, the data were analyzed by the Anova test. The result Mean level of GDS P0: 127.6±2.8; P1: 204.6±6.1; P2: 76.2±1.3; P3: 45.6±2.07; P4: 40±1.58. Mean levels of MDA in nmol/ml P0: 0.93±0.04; P1: 1.20±0.01; P2: 0.73±0.04; P3: 0.44±0.03; P4: 0.22±0.20. The results of the ANOVA test obtained a P value of 0.000 and the results of the post hoc LSD test between groups obtained a P value of 0.000 (<0.05). conclusion is significant difference in reducing GDS and MDA levels between Chia seed extract doses of 4.5 mg/KgBW/day and 13.5 mg/kgBW/day. Keywords: chia seeds; MDA; GDS; DM Type 2

A CASE OF TYPE 1 CRYOGLOBULINEMIA PRESENTING WITH DIFFUSE ALVEOLAR HEMORRHAGE

A CASE OF TYPE 1 CRYOGLOBULINEMIA PRESENTING WITH DIFFUSE ALVEOLAR HEMORRHAGE

Gut Microbiota Functional Traits, Blood pH, and Anti-GAD Antibodies Concur in the Clinical Characterization of T1D at Onset.

Alterations of gut microbiota have been identified before clinical manifestation of type 1 diabetes (T1D). To identify the associations amongst gut microbiome profile, metabolism and disease markers, the 16S rRNA-based microbiota profiling and 1H-NMR metabolomic analysis were performed on stool samples of 52 T1D patients at onset, 17 T1D siblings and 57 healthy subjects (CTRL). Univariate, multivariate analyses and classification models were applied to clinical and -omic integrated datasets. In T1D patients and their siblings, Clostridiales and Dorea were increased and Dialister and Akkermansia were decreased compared to CTRL, while in T1D, Lachnospiraceae were higher and Collinsella was lower, compared to siblings and CTRL. Higher levels of isobutyrate, malonate, Clostridium, Enterobacteriaceae, Clostridiales, Bacteroidales, were associated to T1D compared to CTRL. Patients with higher anti-GAD levels showed low abundances of Roseburia, Faecalibacterium and Alistipes and those with normal blood pH and low serum HbA1c levels showed high levels of purine and pyrimidine intermediates. We detected specific gut microbiota profiles linked to both T1D at the onset and to diabetes familiarity. The presence of specific microbial and metabolic profiles in gut linked to anti-GAD levels and to blood acidosis can be considered as predictive biomarker associated progression and severity of T1D.

First Clinical Manifestations of Type 1 Diabetes Mellitus Among Hospitalized Children in Yazd, Iran: A Single-Center Experience

First Clinical Manifestations of Type 1 Diabetes Mellitus Among Hospitalized Children in Yazd, Iran: A Single-Center Experience

P.071 Case report: cheiro-oral syndrome secondary to thalamic ischemic stroke

Background: Patient with small thalamic infarct may present with a variety of subtle and seemingly disconnected sensory deficits which can be easily missed. Methods: Here we report a case of an 80 years ‘old Chinese female presenting sudden onset persistent sensory symptoms over perioral area and right hand. The patient underwent further investigation with Brain MRI. The patient underwent further investigation with Brain MRI. A literature review was conducted and the patient’s clinical finding was compared with the literature. Results: The patient’s presentation was consistent with clinical manifestation of type 1 Cheiro-Oral syndrome. Brain MRI performed the day after admission revealed small non-hemorrhagic infarction involving the left thalamus. The diagnosis was type 1 cheiro-oral syndrome secondary to left thalamic ischemic stroke. Conclusions: This report highlights both clinical presentations of cheiro-oral syndrome and correlating clinical symptomatology with anatomic localization. It is important for physicians to recognize this rare condition with subtle presentations for complete work-up and definitive treatment.

Clinical Manifestation of Type I Diabetes Mellitus Patients Presented in a Tertiary Care Hospital in Karachi

Clinical Manifestation of Type I Diabetes Mellitus Patients Presented in a Tertiary Care Hospital in Karachi

Maladies de Gaucher, de Niemann-Pick par déficit en sphingomyélinase acide et de Niemann-Pick type C

AbstractGaucher disease is an autosomal recessive lysosomal storage disorder caused by glucocerebrosidase deficiency. Its clinical expression is extremely variable, ranging from lethal forms in utero to asymptomatic forms. There are three main clinical phenotypes. Gaucher disease type 1, the most common form (95%), is the visceral form, non-neuronopathic. Its clinical expression is very heterogeneous with very severe forms in childhood and quasi-asymptomatic forms. Gaucher disease type 2 (< 1% of cases), neurological form, leads to death before the age of 2 years. Gaucher disease type 3, subacute neurological form (5% of cases) combines progressive encephalopathy of varying severity and clinical manifestations of type 1.Niemann Pick disease type A, B and type A/B, also known as Acid sphingomyelinase deficiency (ASMD), is a rare lysosomal storage disorder due to acid sphingomyelinase deficiency. Niemann-Pick disease type A, also known as infantile neurovisceral ASMD, is the most severe form with death by 3 years of age. At the least severe end of the spectrum, Niemann Pick disease type B, chronic visceral ASMD, has a variable age of onset ranging from infancy to adulthood and is slowly progressive visceral without neurodegeneration.Niemann-Pick type C disease is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and glycosphingolipides. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease.

Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

Introduction. Desbuquois dysplasia is a rare skeletal dysplasia with an autosomal recessive inheritance, resembling to the group of multiple joint dislocations. The disease is caused by mutations in the CANT1 and XYLT1 genes, the protein products of which are involved in the degradation of proteoglycans, which play an important role in endochondral ossification. The polymorphism of clinical and radiological characteristics and the genetic heterogeneity of Desbuquois dysplasia necessitate the description of the phenotypic characteristics of patients with various types of mutations, which optimize diagnosis. Objective description of the clinical and radiological characteristics of three Russian patients with Desbuquois dysplasia of types 1 and 2 with remarkable orthopedic manifestation, caused by mutations in the CANT1 and XYLT1 genes. Materials and Methods. Genealogical, clinical, radiographic and genetic data of three unrelated Russian patients aged 2 to 8 years was carried out. Genetic testing was carried out using clinical exome sequencing and methyl-sensitive PCR. Results. Two patients were diagnosed with type 1 disease due to a previously described homozygous mutation in the CANT1 gene: c.898CT (p.Arg300Cys), and one type 2 due to heterozygous mutations in the XYLT1 gene. One mutation: c.1651CT (p.Arg551Cys) was detected during exome sequencing, and the second mutation: expansion of GGC repeats in the promoter region of the gene, revealed by methyl-sensitive PCR of the first exon of the gene. The main clinical signs of the disease were micromelic dwarfism, hypermobility in the joints and specific facial dysmorphisms, radiographic analysis revealed characteristic monkey wrench appearance of the proximal femur in all 3 patients, additional ossification center of the second metacarpal, advanced bone age and multiple dislocations in the joints. The patients also had extra-skeletal manifestations (congenital glaucoma, obstructive bronchitis, renal hypoplasia and congenital heart malformations). Conclusion. Genetic heterogeneity and the presence of polymorphism of clinical manifestations make it possible to consider sequencing of the clinical exome as the optimal method for diagnosing Desbuquois dysplasia types 1 and 2. Analysis of the literature and the results of our molecular genetic data indicate the possibility of expansion of the GGC repeat in the XYLT1 gene in patients with clinical manifestations of type 2 Desbuquois dysplasia.

Plasma Metabolites Associate with All-Cause Mortality in Individuals with Type 2 Diabetes.

Alterations in the human metabolome occur years before clinical manifestation of type 2 diabetes (T2DM). By contrast, there is little knowledge of how metabolite alterations in individuals with diabetes relate to risk of diabetes complications and premature mortality. Metabolite profiling was performed using liquid chromatography-mass spectrometry in 743 participants with T2DM from the population-based prospective cohorts The Malmö Diet and Cancer-Cardiovascular Cohort (MDC-CC) and The Malmö Preventive Project (MPP). During follow-up, a total of 175 new-onset cases of cardiovascular disease (CVD) and 298 deaths occurred. Cox regressions were used to relate baseline levels of plasma metabolites to incident CVD and all-cause mortality. A total of 11 metabolites were significantly (false discovery rate (fdr) <0.05) associated with all-cause mortality. Acisoga, acylcarnitine C10:3, dimethylguanidino valerate, homocitrulline, N2,N2-dimethylguanosine, 1-methyladenosine and urobilin were associated with an increased risk, while hippurate, lysine, threonine and tryptophan were associated with a decreased risk. Ten out of 11 metabolites remained significantly associated after adjustments for cardiometabolic risk factors. The associations between metabolite levels and incident CVD were not as strong as for all-cause mortality, although 11 metabolites were nominally significant (p < 0.05). Further examination of the mortality-related metabolites may shed more light on the pathophysiology linking diabetes to premature mortality.

Severe Ketoacidosis as the First Clinical Manifestation of Type 1 Diabetes Mellitus Secondary to Immune Checkpoint Inhibitors

Introduction Immunotherapy represents one of the fundamental points on the oncological treatments. The increasingly frequent use of these treatments has allowed us to observe various side effects in up to 10 to 20% of patients and endocrine side effects are one of the most commonly described. We report a case of diabetic ketoacidosis in a 46-year-old male patient as debut of type-1 diabetes mellitus secondary to treatment with nivolumab. Case Report The patient who went to the emergency department due to abdominal pain associated with vomiting 48 hours previously. Diagnosed 4 years ago of clear cell renal carcinoma stage IV, due to pulmonary metastatic involvement, the patient was under treatment with nivolumab. Urgent blood and urine tests were performed in the urgency evaluation; the patient was diagnosis of severe diabetic ketoacidosis. Pancreatic endocrine complications are observed in 0.5 to 5% of the patients with immunotherapy. Among the adverse effects described are alterations in baseline fasting glycaemia and the possible development of type-1 diabetes. These molecules increase the activity of T-cells, amplify the cellular immune activity with the consequent increased immune response, which can lead to a destruction of the pancreatic β-cells. Strict endocrine control is necessary during immunotherapy treatment; however, there are no clear indications for the monitoring of pancreatic reserve levels or glycemic control. For these reasons, we propose the need for closer and regular monitoring of C-peptide and HbA1c (glycosylated hemoglobin) to prevent the development of the diabetes and their complications.

Clinical manifestations of Type 1 allergic reactions

Atopik veya anafilaktik tip olarak da adlandırılan Tip I allerjik reaksiyonları; Ig E aracılı acil hipersensitivite reaksiyonlarıdır. Alerjen olarak adlandırılan belirli bir antijene yutma, solunum, enjeksiyon veya doğrudan temas ile tekrar maruz kalınmasıyla tetiklenen reaksiyonlardır. IgE antikorları, histamin granülleri içeren mast hücrelerine ve bazofillere bağlanır. Aynı alerjene daha sonra maruz kalmak, bağlı IgE'nin degranülasyona yol açmasına ve histamin, lökotrien, prostaglandinler gibi mediatörlerin salgılanmasına neden olur. Reaksiyon lokal veya sistemik şekilde görülebilir. Tip I aşırı duyarlılık reaksiyonları sonucu oluşan klinik tablolar; ürtiker, anjiyoödem, anafilaksi,atopik egzema, anafilaksi, besin ve ilaç allerjileri, allerjik astım, allerjik rinit ve allerjik konjonktivit şeklinde gruplandırılır. Bu derlemenin amacı günlük dermatoloji pratiğinde sık ve nadir karşılaşığımız tüm tip 1 allerjik reaksiyonların klinik görünümlerini gözden geçirmek ve bu hastalıkların oluş mekanizmasıyla klinikleri arası bağlantı kurmak hedeflenmiştir.

Features of the manifestation of type 1 diabetes in children and teenagers in the Perm Region

Clinical manifestations of type 1 diabetes mellitus (type 1 diabetes) in children largely depend on the age of the child and the degree of decompensation of metabolic processes at the time of its diagnosis. Early detection of diabetes and early treatment can improve the prognosis of the disease and reduce the risk of further complications and adverse outcomes.&#x0D; The purposeof this work: to identify the features of the manifestation of type 1 diabetes in children in the Perm Region, who fell ill from 2002 to 2017.&#x0D; Methods.The data of anamnesis, clinical and instrumental methods of research were analyzed in 378 patients with newly diagnosed diabetes mellitus type 1 in the period of hospitalization from 2002 to 2017 (378 people).&#x0D; Results.It is revealed that boys and girls get diabetes with the same frequency. The incidence of disease in recent years among rural residents remains at a lower level than in the cities of the region. There is a high incidence of disease throughout the year, regardless of the season. Initiating factors are infectious diseases, as well as various stressful situations. A standard examination in patients revealed changes corresponding to the state of hyperglycemia. One third of patients had ketoacidosis of varying severity. In11% of children, diabetes mellitus was suspected during routine follow-up. Among the comorbidities most frequently encountered are problems of the nervous system and other endocrine diseases. Almost a quarter of patients had burdened heredity according to type 1 diabetes. When comparing the data of anamnesis and manifestation of type 1 diabetes with the data of other regions, no significant difference was found.

Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations

Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is type 2 EIEE associated with CDKL5 gene mutations. We evaluated the prevalence of this type of EIEE among Russian patients (n = 148) with epileptic seizures manifesting in infancy and analyzed their clinical and genetic characteristics. We performed exome sequencing for all patients; 15 (10 %) of them (aged between 2 months and 5 years) were found to have CDKL5 gene mutations and were, therefore, diagnosed with type 2 EIEE. The results of correlation analysis suggest that the severity of clinical manifestations of type 2 EIEE is largely determined by the location of mutations affecting the function of the protein encoded by this gene. This is important to ensure better understanding of type 2 EIEE etiology and predict it severity in patients with different allelic variants.

Type I Diabetes Mellitus

Type 1 diabetes mellitus is characterized by severe insulin deficiency, making patients dependent on exogenous insulin replacement for survival. These patients can experience life-threatening events when their glucose levels are significantly abnormal. Type 1 diabetes accounts for 5 to 10% of all diabetes cases, with type 2 accounting for most of the remainder. This review details the pathophysiology, stabilization and assessment, diagnosis and treatment, disposition and outcomes of patients with Type 1 diabetes mellitus. Figures show the opposing actions of insulin and glucagon on substrate flow and plasma levels; plasma glucose, insulin and C-peptide levels throughout the day; the structure of human proinsulin; current view of the pathogenesis of Type 1 autoimmune diabetes mellitus; pathways that lead from insulin deficiency to the major clinical manifestations of Type 1 diabetes mellitus; relationship between hemoglobin A1c values at the end of a 3-month period and calculated average glucose levels during the 3-month period; different combinations of various insulin preparations used to establish glycemic control; and basal-bolus and insulin pump regimens. Tables list the etiologic classification of Type 1 diabetes mellitus, typical laboratory findings and monitoring in diabetic ketoacidosis, criteria for the diagnosis of Type 1 diabetes, clinical goals of Type 1 diabetes treatment, and insulin preparations. This review contains 10 figures, 9 tables, and 40 references. Keywords: Type 1 diabetes mellitus, optimal glycemic control, hypoglycemia, hyperglycemia, polyuria, polydipsia, polyphagia, HbA1c, medical nutrition therapy, Diabetic Ketoacidosis

Type I Diabetes Mellitus

Type 1 diabetes mellitus is characterized by severe insulin deficiency, making patients dependent on exogenous insulin replacement for survival. These patients can experience life-threatening events when their glucose levels are significantly abnormal. Type 1 diabetes accounts for 5 to 10% of all diabetes cases, with type 2 accounting for most of the remainder. This review details the pathophysiology, stabilization and assessment, diagnosis and treatment, disposition and outcomes of patients with Type 1 diabetes mellitus. Figures show the opposing actions of insulin and glucagon on substrate flow and plasma levels; plasma glucose, insulin and C-peptide levels throughout the day; the structure of human proinsulin; current view of the pathogenesis of Type 1 autoimmune diabetes mellitus; pathways that lead from insulin deficiency to the major clinical manifestations of Type 1 diabetes mellitus; relationship between hemoglobin A1c values at the end of a 3-month period and calculated average glucose levels during the 3-month period; different combinations of various insulin preparations used to establish glycemic control; and basal-bolus and insulin pump regimens. Tables list the etiologic classification of Type 1 diabetes mellitus, typical laboratory findings and monitoring in diabetic ketoacidosis, criteria for the diagnosis of Type 1 diabetes, clinical goals of Type 1 diabetes treatment, and insulin preparations. This review contains 10 figures, 9 tables, and 40 references. Keywords: Type 1 diabetes mellitus, optimal glycemic control, hypoglycemia, hyperglycemia, polyuria, polydipsia, polyphagia, HbA1c, medical nutrition therapy, Diabetic Ketoacidosis

Type I Diabetes Mellitus

Type 1 diabetes mellitus is characterized by severe insulin deficiency, making patients dependent on exogenous insulin replacement for survival. These patients can experience life-threatening events when their glucose levels are significantly abnormal. Type 1 diabetes accounts for 5 to 10% of all diabetes cases, with type 2 accounting for most of the remainder. This review details the pathophysiology, stabilization and assessment, diagnosis and treatment, disposition and outcomes of patients with Type 1 diabetes mellitus. Figures show the opposing actions of insulin and glucagon on substrate flow and plasma levels; plasma glucose, insulin and C-peptide levels throughout the day; the structure of human proinsulin; current view of the pathogenesis of Type 1 autoimmune diabetes mellitus; pathways that lead from insulin deficiency to the major clinical manifestations of Type 1 diabetes mellitus; relationship between hemoglobin A1c values at the end of a 3-month period and calculated average glucose levels during the 3-month period; different combinations of various insulin preparations used to establish glycemic control; and basal-bolus and insulin pump regimens. Tables list the etiologic classification of Type 1 diabetes mellitus, typical laboratory findings and monitoring in diabetic ketoacidosis, criteria for the diagnosis of Type 1 diabetes, clinical goals of Type 1 diabetes treatment, and insulin preparations. This review contains 10 figures, 9 tables, and 40 references. Keywords: Type 1 diabetes mellitus, optimal glycemic control, hypoglycemia, hyperglycemia, polyuria, polydipsia, polyphagia, HbA1c, medical nutrition therapy, Diabetic Ketoacidosis

Zinc transporter 8 autoantibodies (ZnT8-ab) are associated with higher prevalence of multiple diabetes-related autoantibodies in adults with type 1 diabetes

AimThe study aimed to assess the prevalence of zinc transporter 8 autoantibodies (ZnT8-ab), other diabetes-related autoantibodies and clinical manifestation of type 1 diabetes in adults, depending on age of the onset of disease. Methods119 patients with type 1 diabetes, 66 at age <35 years (T1DM < 35) and 53 T1DM at age ≥35 years (T1DM ≥ 35). We assessed clinical features, GAD-ab, IA2-ab, ICA, ZnT8-ab and thyroid peroxidase antibodies (ATPO). ResultsIn T1DM < 35 lower initial serum C-peptide concentration was observed and diabetes ketoacidosis (DKA) was more common. ATPO positivity was more prevalent in T1DM ≥ 35 (35.8 vs 21.2%, p = 0.04). The prevalence of GAD-ab, IA2-ab and ZnT8-ab was similar in both groups, the titres of IA2-ab and ICA were higher in T1DM < 35 but titre of ZnT8-ab was higher in T1DM ≥ 35. The majority of T1DM < 35 patients were positive for three autoantibodies (40.9%), while T1DM ≥ 35 subjects most often presented with only one (30.2%) antibody, most commonly GAD-ab (81.2%). 45% T1DM < 35 and 34% T1DM ≥ 35 subjects were positive for ZnT8-ab. ZnT8-ab positive patients had higher titre and more frequent occurrence of multiple diabetes-related autoantibodies than ZnT8-ab negative patients. ConclusionsAdults with T1DM < 35 and T1DM ≥ 35 differ in the severity of autoimmune response at diagnosis. ZnT8-ab positivity is related to higher titre and more frequent occurrence of multiple diabetes-related autoantibodies.

Pediatric oral Epstein-Barr virus associated self-remitting CD30+ lymphoproliferative disorder: A distinct entity

Epstein-Barr virus (EBV) has a well-known association with lymphoproliferative disorders of B and T cell origin. EBV-related B cell lymphoproliferative disorders include Hodgkin and Burkitt lymphomas, lymphomatoid granulomatosis, EBV positive diffuse large cell B cell lymphoma of the elderly, as well as B cell lymphomas associated with solid organ transplantation and methotrexate use. EBV-related T cell disorders are primarily represented by NK/T- cell lymphoma. In a subset of patients, EBV has been implicated in CD30 positive B cell lymphoproliferative disorders of the oral mucosa falling under the rubric of the mucocutaneous ulcer of the oral cavity. We previously reported on an index series of endogenous CD30 positive T cell lymphoproliferative disorder of the oral cavity resembling borderline type C lymphomatoid papulosis. The clinical manifestation of type C oral lymphomatoid papulosis is that of a recurrent self-remitting ulcer of the oral mucosa, which histologically resembles anaplastic large cell lymphoma. Such cases can be misdiagnosed as aggressive lymphoma leading to unnecessary treatment with aggressive chemotherapeutic regimens. Whereas none of the patients in our index series exhibited EBV positivity, here we discuss a very unique example of a 14-year-old girl diagnosed with EBV positive CD30 positive lymphoproliferative disorder strongly resembling the cases of intra-oral type C lymphomatoid papulosis. The patient was initially diagnosed by a senior hematopathology consultant as having EBV positive aggressive NK/T-cell lymphoma. The significance of raising physician awareness regarding pediatric oral EBV associated CD30 positive lymphoproliferative disease of the oral cavity lies in preventing inadvertent exposure to toxic chemotherapeutic agents intended for treatment of aggressive look-alikes, namely anaplastic large cell lymphoma. Additionally, we include a literature review of similar reports of pediatric intra-oral EBV positive CD30 positive T cell lymphoproliferative disease.