scholarly journals Autoimmune Hepatitis and Sarcoidosis

2017 ◽  
Vol 03 (02) ◽  
pp. 124-126
Author(s):  
Shoaib Junejo ◽  
Sandeep Tuli
Keyword(s):  
Autoimmune Hepatitis ◽  
Granulomatous Inflammation ◽  
The Body ◽  
Unknown Etiology ◽  
African American Female ◽  
Smooth Muscle Antibody ◽  
Organ Systems ◽  
Systemic Disorder ◽  
Right Upper Quadrant Ultrasound ◽  
Noncaseating Granulomas

Abstract Background: Sarcoidosis is a systemic disorder of unknown etiology. It affects the organ systems in the body, and is characterized by the presence of noncaseating granulomas in the involved organs. The most common manifestation is bilateral hilar adenopathy along with skin, joint, and eye lesions. Here, we discuss an unusual manifestation of sarcoidosis along with autoimmune hepatitis (AIH). Case report: We report the case of a 33-year-old African American female presented with two-day history of progressive jaundice and deranged Liver function test (LFTs) the autoimmune work up was positive for anti-nuclear antibody (ANA) 1:640 and anti-smooth muscle antibody (SMA) 1:160, The serum Angiotensin converting enzyme (ACE) level was elevated 299 U/L; a right upper quadrant ultrasound revealed a mildly enlarged liver, subsequent CT chest and CT abdomen enlarged paratracheal and subcarinal adenopathy periportal edema in the liver and numerous small hypodense nodules in the spleen. Subsequent liver biopsy showed chronic, non-granulomatous, portal and parenchymal inflammation that was compatible with Autoimmune Hepatitis. Bronchoscopy with transbroncial biopsy revealed chronic, non-caseating granulomatous inflammation that was consistence with sarcoidosis. Thus the patient was diagnosed with sarcoidosis and AIH. The patient was started on Prednisone 60 mg daily, with subsequent reduction to 15 mg. The serum transaminase levels returned to normal level within three months. Conclusion: This case underscores the significance of association of Sarcoidosis that presented with Autoimmune Hepatitis. Physicians should be aware of this possibility so they may efficiently pick up the diagnosis after relevant investigations and start appropriate management. Timely intervention is key to treat the acute presentation and to prevent the further complications.

scholarly journals Sarcoidosis: Is It a Possible Trigger of Inclusion Body Myositis?

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Ali Zakaria ◽  
Issam Turk ◽  
Kenneth Leung ◽  
Ana Capatina-Rata ◽  
Waseem Farra
Keyword(s):  
Inclusion Body ◽  
Muscle Weakness ◽  
Inclusion Body Myositis ◽  
Inflammatory Myopathy ◽  
Granulomatous Inflammation ◽  
Stage Iv ◽  
Unknown Etiology ◽  
African American Female ◽  
Multisystem Disorder ◽  
Distal Muscle

Sarcoidosis is a multisystem disorder of unknown etiology, characterized pathologically by the presence of nonnecrotizing granulomatous inflammation in affected organs. Although skeletal muscle is involved in 50–80 percent of individuals with sarcoidosis, symptomatic myopathy has been shown to be a rare manifestation of the disease. Inclusion body myositis (IBM) is a rare acquired idiopathic inflammatory myopathy with the insidious onset of asymmetric and distal muscle weakness that characteristically involves the quadriceps, tibialis anterior, and forearm flexors. Moreover, dysphagia can be the presenting complaint in one-third of patients. Herein, we are presenting a case of 67-year-old African American female who presented with one-month history of new onset progressive dyspnea on exertion. She was diagnosed with stage IV sarcoidosis based on chest CT scan findings and transbronchial lung biopsy revealing nonnecrotizing granulomatous inflammation. Over the next three months after her diagnosis, she presented to the hospital with progressive dysphagia associated with asymmetrical distal muscle weakness. A quadriceps muscle biopsy revealed features consistent with inclusion body myositis. We are reporting this case as it may support the hypothesis of sarcoidosis being a trigger that possibly promotes the development of inclusion body myositis, leading to a very poor prognosis.

FDG-PET Scan in Sarcoidosis: Clinical and Imaging Indications

2018 ◽  
Vol 15 (1) ◽  
pp. 4-9
Author(s):  
Marica T. Maccarone
Keyword(s):  
Fdg Pet ◽  
Signs And Symptoms ◽  
Inflammatory Cells ◽  
The Body ◽  
Unknown Etiology ◽  
Imaging Features ◽  
Positron Emission ◽  
Fdg Pet Scan ◽  
Mediastinal Involvement ◽  
Noncaseating Granulomas

Background:Sarcoidosis is an unknown etiology multisystem inflammatory disease in which noncaseating granulomas (a collections of inflammatory cells) form and grow in various organs, involving predominantly lungs, intrathoracic lymph node, skin and eyes. It most commonly affects patients between 20 and 40 years old of age but it could be observed at any age (female predominance; rare in Asians). </P><P> Discussion: The areas of the body usually affected by sarcoidosis are lungs, skin, or lymph nodes; pulmonary and mediastinal involvement is seen in over of 90% of patients. Less commonly eyes, liver, heart, and brain are involved. Any organ, however, can be affected. </P><P> Early diagnosis of sarcoidosis can be difficult due to few signs and symptoms in its early stages, and when disease does occur, it may mimic other pathologies, and is made up with chest X-ray, Computed Tomography (CT)-High Resolution CT (HRCT), gallium scans. Fluoro-Deoxy Glucose– Positron Emission Tomography (FDG-PET) is another useful tool to assess the extent of disease and has a potential to evaluate the clinical management of patients responding or not to the treatment.Conclusion:In this review, we would summarize in brief the clinical indications of PDG-PET in sarcoidosis and report the imaging features of the main organs involved in this disease.

scholarly journals MON-340 Isolated Extrapulmonary Sarcoidosis Presenting as Symptomatic Hypercalcemia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Janya Swami
Keyword(s):  
Vitamin D ◽  
Liver Biopsy ◽  
Mental Status ◽  
Calcium Absorption ◽  
Granulomatous Inflammation ◽  
Normal Serum ◽  
Unknown Etiology ◽  
Granulomatous Disease ◽  
Organ Systems ◽  
Sarcoidosis Present

Abstract Introduction: Sarcoidosis is a granulomatous disease of unknown etiology often involving multiple organ systems. Sarcoidosis most frequently affects the lungs, but in upto 30% of cases, can present with extrapulmonary manifestations. Less than 10% of patients with sarcoidosis present with disease at extrapulmonary sites. 10%-20% patients with sarcoidosis present with hypercalcemia. Hypercalcemia in sarcoidosis is secondary to increased intestinal calcium absorption due to increased levels of 1,25-dihydroxy Vitamin D. Clinical Case: 71-year-old Caucasian male presenting to his primary care physician with 3-week duration of fatigue, anorexia, mild confusion and unintentional weight loss was found to have moderate hypercalcemia and acute kidney injury. He was admitted the hospital for evaluation and management. Labs at admission revealed albumin-corrected calcium of 13.5 mg/dL (normal 8.5-11.0 mg/dL), creatinine of 1.78 mg/dL (normal 0.7- 1.3mg/dL) and alkaline phosphatase of 173 U/L (normal 45-117 U/L). Workup noted low PTH (3,normal 14-72 pg/mL), normal 25-hydroxy Vitamin D (50.7,normal 30-100 ng/dL), normal PTHrP and normal serum electrophoresis and immunofixation indicating non-PTH dependent hypercalcemia. 1,25-dihydroxy Vitamin D (125, normal 18-64 pg/mL) and ACE levels (159 U/L, normal 16-85 U/L) were elevated. Patient denied being on any Vitamin D supplements. A CT chest, abdomen and pelvis was done to look for occult malignancy and hepatosplenomegaly was noted with only mild compressive atelectasis of lungs. Abdominal ultrasound confirmed hepatomegaly with lobulated outer contour consistent with cirrhosis. Acute hepatitis, infectious and autoimmune work up was negative. Patient was discharged with mild improvement in calcium and mental status with hydration. Due to high suspicion for granulomatous disease, a liver biopsy was done. Liver biopsy confirmed granulomatous hepatitis with stage 2 of 4 fibrosis with numerous foci of non-caseating granulomatous inflammation. With negative acid-fast staining, no fungal organisms, absence of foreign material, normal eosinophil counts and low clinical suspicion for Crohn’s disease, a diagnosis of abdominal sarcoidosis was made. The patient was started on 10 mg prednisone daily and within one week, his albumin- corrected calcium levels improved to 10.4 mg/dL with significant improvement in appetite and mental status. Conclusion: While isolated extrapulmonary sarcoidosis is rare, it is an important cause of hypercalcemia due to elevated 1,25-dihydroxyvitamin D levels. Management of hypercalcemia secondary to sarcoidosis often consists of initiating glucocorticoids which act mainly by inhibition of 1,25-dihydroxy vitamin D synthesis in addition to inhibiting calcium absorption and osteoclast activity.

scholarly journals An Uncommon Cause of a Small-Bowel Obstruction

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Ali Zakaria ◽  
Bayan Al Share ◽  
Issam Turk ◽  
Samira Ahsan ◽  
Waseem Farra
Keyword(s):  
Small Bowel ◽  
Small Bowel Obstruction ◽  
Bowel Obstruction ◽  
Previous History ◽  
Granulomatous Inflammation ◽  
Giant Cells ◽  
Unknown Etiology ◽  
Granulomatous Disease ◽  
History Of ◽  
Noncaseating Granulomas

Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas. Gastrointestinal (GI) system involvement that is clinically recognizable occurs in less than 0.9% of patients with sarcoidosis, with data revealing small intestine involvement in 0.03% of the cases. A high index of suspension is required in patients presenting with small-bowel obstruction and previous history of sarcoidosis. Establishing a definitive diagnosis of GI sarcoidosis depends on biopsy evidence of noncaseating granulomas, exclusion of other causes of granulomatous disease, and evidence of sarcoidosis in at least one other organ system. Treatment of GI sarcoidosis depends on symptomatology and disease activity. Herein, we are presenting a case of 67-year-old female patient who had acute small-bowel obstruction at the level of jejunum with postoperative histopathologic evidence of noncaseating granulomatous inflammation with multinucleated giant cells, consistent with sarcoidosis.

Perbedaan Efektivitas Pemberian Origami Dan Playdough Terhadap Perkembangan Pada Anak Prasekolah Kelompok A Di TK Aisyiyah Bustanul Athfal Kota Kediri

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Halimatus Saidah ◽  
Yunida Septiyanty
Keyword(s):  
Child Development ◽  
Sampling Technique ◽  
The Body ◽  
Purposive Sampling ◽  
Organ Systems ◽  
Post Test ◽  
Group A ◽  
Key Words Development ◽  
Children Development ◽  
Research Show

ABSTRAKPerkembangan (development) adalah bertambahnya kemampuan atau fungsi semua sistem organ tubuh sebagai akibat bertambahnya kematangan atau maturitas fungsi sistem organ tubuh (Dewi, 2013). Tujuan penelitian ini adalah mengetahui perbedaan efektivitas pemberian origami dan playdough terhadap perkembangan pada anak prasekolah kelompok A di TK Aisyiyah Bustanul Athfal tahun 2018.Desain penelitian yang digunakan adalah penelitian pre eksperiment dengan pendekatan pre-test and post-test Design. Populasi yang diteliti adalah seluruh anak kelompok A di TK Aisyiyah Bustanul Athfal berjumlah 56 anak dengan teknik purposive sampling diperoleh sampel 36 responden. Instrumen penelitian yang digunakan adalah lembar KPSP. Hasil penelitian kemudian dianalisa dengan menggunakan wilcoxon signed rank.Hasil penelitian yang dilakukan menunjukan bahwa perkembangan anak sebelum pelaksanaan pemberian Origami didapatkan setengahnya perkembangan anak meragukan, setelah pelaksanaan didapatkan hampir seluruhnya perkembangan anak sesuai. Perkembangan anak sebelum pelaksanaan pemberian Playdough didapatkan sebagian besar perkembangan anak meragukan, setelah pelaksanaan didapatkan sebagian besar perkembangan anak sesuai. Hasil analisis menunjukkan ada pengaruh pemberian permainan origami dan permainan Playdough terhadap perkembangan anak kelompok A di TK Aisyiyah Bustanul Athfal Tahun 2018 dengan hasil ρ-value = 0,001 ɑ = 0,05 dari kelompok origami dan ρ-value = 0,007 ɑ = 0,05 dari kelompok playdough, sedangkan hasil analisis perbedaan adanya perbedaan efektivitas pengaruh pemberian permainan origami dan playdough terhadap perkembangan anak pada kelompok A di TK Aisyiyah Bustanul Athfal Tahun 2018 dengan hasil ρ-value = 0,043 ɑ = 0,05.Berdasarkan hasil penelitian dapat disimpulkan ada pengaruh permainan origami dan playdough terhadap perkembangan anak pada kelompok A di TK Aisyiyah Bustanul Athfal Tahun 2018. Diharapkan kepada orang tua maupun guru untuk lebih meningkatkan frekuensi dalam memberi stimulus permainan terutama permainan origami yang diberikan kepada anak. Kata Kunci : Perkembangan , Anak Prasekolah,  Origami, Playdough ABSTRACTDevelopment is increasing ability or function of all organ systems of the body as a result of increasing maturity or maturity function of the organ system of the body (Dewi, 2013). The purpose of this research is to know the effectiveness difference of origami and playdough on development in preschoolers group A in Aisyiyah Bustanul Athfal Kindergarten in 2018.The research design used is research pre eksperiment with approach pre-test dan post-test. The population studied was all group A children in kindergarten Aisyiyah Bustanul Athfal amounted to 56 children with purposive sampling technique obtained sample 36 respondents. The research instrument used is KPSP sheet. The results were then analyzed by using wilcoxon signed rank.The results of the research show that the development of children before the implementation of giving Origami found half of child development doubt, after the implementation is obtained almost entirely the child's development accordingly. Child development prior to the implementation of Playdough gift obtained most of the development of children doubt, after the implementation is obtained most of the child's development accordingly.  The results of the analysis show that there is an effect of giving origami game and Playdough game to the child development group A in Aisyiyah Bustanul Athfal Kindergarten Year 2018 with the result ρ-value = 0.001 ɑ = 0.05 from the origami group and ρ-value = 0.007 ɑ = 0.05 of the playdough group, while the result of difference analysis that is difference between origami and playdough influence to children development in group A diiyah Aisyiyah Bustanul Athfal Year 2018 with result of ρ-value = 0,043 ɑ = 0,05.Based on the research results can be concluded there is influence of origami and playdough on the development of children in group A in Aisyiyah Bustanul Athfal Kindergarten Year 2018. Expected to parents and teachers to increase the frequency of giving stimulus especially the origami given to the child. Key Words : Development, children preschool, Origami, Playdough

scholarly journals De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

2021 ◽  
pp. jmedgenet-2020-107427
Author(s):  
Aviel Ragamin ◽  
Carolina C Gomes ◽  
Karen Bindels-de Heus ◽  
Renata Sandoval ◽  
Angelia V Bassenden ◽  
...  
Keyword(s):  
Giant Cell ◽  
De Novo ◽  
Neuromuscular Disorders ◽  
Somatic Mosaicism ◽  
Ion Leakage ◽  
Gain Of Function ◽  
Therapeutic Modalities ◽  
Organ Systems ◽  
Heterozygous Variant ◽  
Systemic Disorder

BackgroundPathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713.MethodsHere we report two unrelated women with a de novo germline p.Leu619Pro TRPV4 variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies.ResultsFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4 p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage.ConclusionOur findings define a novel polysystemic syndrome due to germline TRPV4 p.Leu619Pro and further extend the spectrum of TRPV4 channelopathies. They further highlight the convergence of TRPV4 mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

scholarly journals Congenital Lumbar Hernia in an 8-Month-Old Boy

2021 ◽  
Vol 15 (1) ◽  
pp. 431-435
Author(s):  
Mohamed Mansy ◽  
Mostafa Kotb ◽  
Mohamed Abouheba
Keyword(s):  
Congenital Anomalies ◽  
Lumbar Hernia ◽  
The Body ◽  
Age Group ◽  
Pediatric Age ◽  
Operative Repair ◽  
Pediatric Age Group ◽  
Organ Systems

Congenital lumbar hernias are uncommonly seen in the pediatric age group, with only about 60 cases reported in the literature. It is usually accompanied by a multitude of congenital anomalies involving different organ systems of the body. For instance, it may involve the ribs, spine, muscles, and the kidneys. Herein, we report a case of congenital lumbar hernia in an 8-month-old boy who underwent an operative repair using a mesh with an uneventful outcome.

scholarly journals Innate Immunity Modulation by the IL-33/ST2 System in Intestinal Mucosa

2013 ◽  
Vol 2013 ◽  
pp. 1-13 ◽  
Author(s):  
Marina García-Miguel ◽  
M. Julieta González ◽  
Rodrigo Quera ◽  
Marcela A. Hermoso
Keyword(s):  
Ulcerative Colitis ◽  
Innate Immunity ◽  
Intestinal Mucosa ◽  
Inflammatory Bowel Diseases ◽  
The Body ◽  
Unknown Etiology ◽  
Adequate Food ◽  
Bowel Diseases ◽  
Surface Contact Area ◽  
Inflammatory Bowel

Innate immunity prevents pathogens from entering and spreading within the body. This function is especially important in the gastrointestinal tract and skin, as these organs have a large surface contact area with the outside environment. In the intestine, luminal commensal bacteria are necessary for adequate food digestion and play a crucial role in tolerance to benign antigens. Immune system damage can create an intestinal inflammatory response, leading to chronic disease including inflammatory bowel diseases (IBD). Ulcerative colitis (UC) is an IBD of unknown etiology with increasing worldwide prevalence. In the intestinal mucosa of UC patients, there is an imbalance in the IL-33/ST2 axis, an important modulator of the innate immune response. This paper reviews the role of the IL-33/ST2 system in innate immunity of the intestinal mucosa and its importance in inflammatory bowel diseases, especially ulcerative colitis.

scholarly journals The Act of Controlling Adult Stem Cell Dynamics: Insights from Animal Models

Biomolecules ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 667
Author(s):  
Meera Krishnan ◽  
Sahil Kumar ◽  
Luis Johnson Kangale ◽  
Eric Ghigo ◽  
Prasad Abnave
Keyword(s):  
Stem Cells ◽  
Animal Models ◽  
Adult Stem Cells ◽  
The Body ◽  
In Vivo Studies ◽  
Self Renewal ◽  
Hematopoietic Stem ◽  
Organ Systems

Adult stem cells (ASCs) are the undifferentiated cells that possess self-renewal and differentiation abilities. They are present in all major organ systems of the body and are uniquely reserved there during development for tissue maintenance during homeostasis, injury, and infection. They do so by promptly modulating the dynamics of proliferation, differentiation, survival, and migration. Any imbalance in these processes may result in regeneration failure or developing cancer. Hence, the dynamics of these various behaviors of ASCs need to always be precisely controlled. Several genetic and epigenetic factors have been demonstrated to be involved in tightly regulating the proliferation, differentiation, and self-renewal of ASCs. Understanding these mechanisms is of great importance, given the role of stem cells in regenerative medicine. Investigations on various animal models have played a significant part in enriching our knowledge and giving In Vivo in-sight into such ASCs regulatory mechanisms. In this review, we have discussed the recent In Vivo studies demonstrating the role of various genetic factors in regulating dynamics of different ASCs viz. intestinal stem cells (ISCs), neural stem cells (NSCs), hematopoietic stem cells (HSCs), and epidermal stem cells (Ep-SCs).

Taxonomic description and 3D modelling of a new species of myzostomid (Annelida, Myzostomida) associated with black corals from Madagascar

Zootaxa ◽  
2017 ◽  
Vol 4244 (2) ◽  
pp. 277 ◽  
Author(s):  
LUCAS TERRANA ◽  
IGOR EECKHAUT
Keyword(s):  
New Species ◽  
Phylogenetic Analyses ◽  
Three Dimensional ◽  
Close Relation ◽  
Ventral Side ◽  
Middle Part ◽  
The Body ◽  
Taxonomic Description ◽  
Black Corals ◽  
Organ Systems

Eenymeenymyzostoma nigrocorallium n. sp. is the first species of myzostomid worm associated with black corals to be described. Endoparasitic specimens of E. nigrocorallium were found associated with three species of antipatharians on the Great Reef of Toliara. Individuals inhabit the gastrovascular ducts of their hosts and evidence of infestation is, most of the time, not visible externally. Phylogenetic analyses based on 18S rDNA, 16S rDNA and COI data indicate a close relation to Eenymeenymyzostoma cirripedium, the only other species of the genus. The morphology of E. nigrocorallium is very unusual compared to that of the more conventional E. cirripedium. The new species has five pairs of extremely reduced parapodia located on the body margin and no introvert, cirri or lateral organs. Individuals are hermaphroditic, with the male and female gonads both being located dorsally in the trunk. It also has a highly developed parenchymo-muscular layer on the ventral side, and the digestive system lies in the middle part of the trunk. A three-dimensional digital model of this worm’s body plan has been constructed whereby the external morphology and in toto views of the observed organ systems (nervous, digestive and reproductive) can be viewed on-screen: http://doi.org/10.13140/RG.2.2.17911.21923. 

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