scholarly journals A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx

2014 ◽  
Vol 4 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Mahesh Chandra Sahu ◽  
Maitreyee Panda ◽  
Nibedita Patro
Keyword(s):  
Oral Mucosa ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Autosomal Recessive Inheritance ◽  
Clinical Severity ◽  
Striated Muscles ◽  
Periodic Acid Schiff ◽  
Lipoid Proteinosis ◽  
The Central Nervous System ◽  
Hyaline Material

ABSTRACT Lipoid proteinosis (LP) is a rare genetic disease with autosomal recessive inheritance. It most often involves deposition of periodic acid Schiff positive hyaline material in skin, oral mucosa, larynx and other tissues. But it also involves the central nervous system, lungs, lymph nodes and striated muscles. Hoarseness, small papules on the eyelid border (moniliform blepharosis), enlarged tongue, waxy skin, and diffuse verrucous skin colored or yellowish papules and plaques on traumatized areas and oral mucosa are the most common features leading to the clinical diagnosis of LP. We present the case report of a 12-year-old boy with significant hoarseness, inability to protrude the tongue, beaded papules along the eyelid margins, and scarring of the skin. Of his two sisters, one had the same symptoms but with less clinical severity and the other had no features of LP. How to cite this article Swain SK, Panda M, Patro N, Sahu MC. A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx. Int J Phonosurg Laryngol 2014;4(1):23-26.

scholarly journals Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

2013 ◽  
Vol 3 (2) ◽  
pp. 61-64
Author(s):  
Deepthi Koganti
Keyword(s):  
Oral Cavity ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Internal Organs ◽  
Periodic Acid Schiff ◽  
Laryngeal Involvement ◽  
Hyaline Material

ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice. How to cite this article Koganti D. Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice. Int J Phonosurg Laryngol 2013;3(2):61-64.

β-Mannosidosis in German Shepherd Dogs

2019 ◽  
Vol 56 (5) ◽  
pp. 743-748 ◽  
Author(s):  
Robert D. Jolly ◽  
Keren E. Dittmer ◽  
Dorian J. Garrick ◽  
Anastasia Chernyavtseva ◽  
Kim M. Hemsley ◽  
...  
Keyword(s):  
Nervous Tissue ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Periodic Acid ◽  
Causative Mutation ◽  
Lysosomal Storage ◽  
German Shepherd ◽  
Periodic Acid Schiff ◽  
Genomic Studies ◽  
Renal Tubular

A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects. Histopathology showed severe vacuolation of neurons, astrocytes in nervous tissue, renal tubular epithelial cells, and macrophages in nervous tissue, spleen, and liver. Vacuoles appeared empty with no storage material stained by periodic acid–Schiff (PAS) or Sudan black stains, leading to a diagnosis of a lysosomal storage disease and in particular an oligosaccharidosis. Biochemical and genomic studies showed that this was β-mannosidosis, not previously diagnosed in dogs. A c.560T>A transition in exon 4 of the MANBA gene was found, which segregated in these and other family members in a manner consistent with it being the causative mutation of an autosomal recessive disease. This mutation led to substitution of isoleucine to asparagine at position 187 of the 885 amino acid enzyme, a change expected to have functional significance.

scholarly journals Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

2020 ◽  
pp. jmedgenet-2020-107042
Author(s):  
Chencheng Yao ◽  
Chao Yang ◽  
Liangyu Zhao ◽  
Peng Li ◽  
Ruhui Tian ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periodic Acid ◽  
Compound Heterozygous ◽  
Obstructive Azoospermia ◽  
Autosomal Recessive Mode ◽  
Loss Of Function ◽  
Meiotic Arrest ◽  
Causative Gene ◽  
Periodic Acid Schiff ◽  
Mode Of Inheritance

BackgroundThe genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear.MethodsTwo Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid–Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.ResultsWe identified compound heterozygous loss of function (LoF) variants of SHOC1 (c.C1582T:p.R528X and c.231_232del:p.L78Sfs*9, respectively) in both affected cases with NOA from family 1. In family 2, homozygous LoF variant in SHOC1 (c.1194delA:p.L400Cfs*7) was identified in the siblings with infertility. PAS, IHC and meiotic chromosomal spread analyses demonstrated that the spermatogenesis was arrested at zygotene stage in the three patients with NOA. Consistent with the autosomal recessive mode of inheritance, all of these SHOC1 variants were inherited from heterozygous parental carriers. Intriguingly, WES of 362 sporadic NOA cases revealed one additional NOA case with a bi-allelic SHOC1 LoF variant (c.1464delT:p.D489Tfs*13).ConclusionTo the best of our knowledge, this is the first report identifying SHOC1 as the causative gene for human NOA. Furthermore, our study showed an autosomal recessive mode of inheritance in the NOA caused by SHOC1 deficiency.

scholarly journals The Potential of Light Microscopic Features of the Oral Mucosa in Predicting Post-mortem Interval

2021 ◽  
Vol 21 (1) ◽  
pp. e34-41
Author(s):  
Jagganath Patro ◽  
Swagatika Panda ◽  
Neeta Mohanty ◽  
Uma S. Mishra
Keyword(s):  
Connective Tissue ◽  
Oral Mucosa ◽  
Buccal Mucosa ◽  
Periodic Acid ◽  
Post Mortem ◽  
Periodic Acid Schiff ◽  
Post Mortem Interval ◽  
Cellular Changes ◽  
Microscopic Evaluation ◽  
Microscopic Features

Objectives: The post-mortem interval (PMI) refers to the amount of time elapsed between death and discovery of the body. This study aimed to evaluate light microscopic cellular changes in the oral mucosa and identify the potential of this method for predicting PMI. Methods: This prospective study was conducted between July 2016 and January 2018 at the Institute of Dental Sciences, Siksha ‘O’ Anusandhan University, Bhubaneswar, India. A total of 150 post-mortem (including 75 gingival and 75 buccal mucosa samples) and 40 ante-mortem (including 20 gingival and 20 buccal mucosa samples) tissue samples were compared using haematoxylin and eosin, periodic acid-Schiff (PAS) and van Gieson stains. Microscopic changes in the epithelium and connective tissue were categorised according to PMI stage as early (<12.5 hours since death), intermediate (12.5–20.5 hours since death) or late (>20.5 hours since death). Results: Most epithelial cellular changes occurred early, except for arc-shaped nuclei and epithelial shredding which were intermediate and late changes, respectively. However, microscopic changes in the connective tissue were only observable at ≥12.5 hours. There was a progressive decrease in intensity in van Gieson stains and an increase in intensity in PAS stains as PMI increased. Several microscopic features were found to be significant predictors of PMI including epithelial homogenisation, cytoplasmic vacuolation, nuclear degeneration, arc-shaped nuclei, chromatin clumping, red blood cell clumping and lysis, melanin incontinency, myofibril degeneration, salivary gland acini degeneration and epithelial connective tissue separation (P <0.050 each). Conclusion: These findings indicate that microscopic evaluation of the oral mucosa may be helpful for PMI prediction.   KEYWORDS Post-mortem Changes; Light Microscopy; Oral Mucosa; Epithelial Cells; Lamina Propria; Salivary Glands; Histocytochemistry; Periodic Acid-Schiff Reaction; India.

scholarly journals Lipoid Proteinosis: A Rare Disease In Pediatric Dentistry

2020 ◽  
Vol 31 (2) ◽  
pp. 186-189
Author(s):  
Alan Grupioni Lourenço ◽  
Vera Cavalcanti Araújo ◽  
Fabricio Passador-Santos ◽  
Marcelo Sperandio ◽  
Brad Wesley Neville ◽  
...  
Keyword(s):  
Buccal Mucosa ◽  
Histopathological Examination ◽  
Periodic Acid ◽  
Female Child ◽  
Pediatric Dentistry ◽  
Diagnostic Process ◽  
Pathology Report ◽  
Periodic Acid Schiff ◽  
Lower Lip ◽  
Lipoid Proteinosis

Abstract This report describes the diagnostic process of a rare disorder in a Brazilian female child. The patient presented initially as a 7-year-old with multiple whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she turned 9 years of age, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, tongue and lingual frenulum. In addition, dermatological lesions were noted on the child’s limbs and face, as well as a hoarse voice. Histopathological examination of the buccal mucosa revealed dense connective tissue with hyaline foci, which were positive with periodic acid-Schiff (PAS) staining and resistant to diastase digestion. Clinical and histopathological findings led to the diagnosis of a rare genetic disease with fewer than 300 reported cases - lipoid proteinosis. Magnetic resonance imaging revealed calcium deposits in her amygdaloid region of the brain, and nasopharyngolaryngoscopy revealed lesions in her vocal cords. The patient currently is stable and under multidisciplinary follow-up, but no treatment has been recommended to date.

scholarly journals A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

2020 ◽  
Vol 17 (3) ◽  
Author(s):  
Mohammad Ali Kazemi ◽  
Zahra Ahmadian Mazhin ◽  
Hashem Sharifian ◽  
Samira Hemmati ◽  
Behnaz Moradi
Keyword(s):  
Case Report ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Genetic Mutation ◽  
Imaging Findings ◽  
True Vocal Cord ◽  
Periodic Acid Schiff ◽  
Lipoid Proteinosis ◽  
Voice Changes ◽  
The Right

: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations. It mostly involves the skin, intracranium, and the larynx. In this case report, we present a case with a long history of hoarseness. Imaging findings include bilateral true vocal cord (TVC) mucosal irregularity with hyperdense depositions, bilateral medial temporal amygdala parallel bean shape calcification (pathognomonic sign), and bilateral striatal (caudate and putamen) hypoattenuation. The patient also had multiple warty papules on the hands. Biopsy of the right TVC showed submucosal deposition of periodic acid-Schiff (PAS)-positive amorphous hyaline material and confirmed the diagnosis of lipoid proteinosis. Typical imaging findings especially in the brain could be very helpful in interpretation of laryngeal imaging findings in cases of lipoid proteinosis who manifest with long term voice changes and hoarseness.

scholarly journals Basophilic peripheral nerve inclusions in patient with L144F SOD1 amyotrophic lateral sclerosis

2021 ◽  
pp. 97-97
Author(s):  
Dejan Aleksic ◽  
Stojan Peric ◽  
Sanja Milenkovic ◽  
Milena Jankovic ◽  
Vidosava Rakocevic-Stojanovic ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Peripheral Nerve ◽  
Motor Neurons ◽  
Peripheral Nerves ◽  
Periodic Acid ◽  
Limb Weakness ◽  
Periodic Acid Schiff ◽  
The Central Nervous System ◽  
Als Patients ◽  
Lateral Sclerosis

Introduction. Histopathological findings of various inclusions were reported in the central nervous system of amyotrophic lateral sclerosis (ALS) patients, but not in the peripheral nerves. Case report. Our patient was a 66-year-old man with lower limb weakness later involvement of upper limbs, and loss of sphincter control. Neurological examination showed affection of both upper and lower motor neurons. He had paresthesia of the left side of his body and socks-distribution numbness. Histopathology of the sural nerve and genetic report showed basophilic periodic acid-Schiff (PAS)-positive intra-axonal inclusions and heterozygous L144F mutation in the exon 5 of the SOD1 gene. Conclusion. It seems that presence of the basophilic peripheral nerve inclusions may suggest diagnosis of SOD1 positive ALS.

scholarly journals Recessive genetic effects on type 2 diabetes-related metabolites in a consanguineous population

2019 ◽  
Author(s):  
Ayşe Demirkan ◽  
Jun Liu ◽  
Najaf Amin ◽  
Jan B van Klinken ◽  
Ko Willems van Dijk ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Autosomal Recessive ◽  
Metabolic Diseases ◽  
Genetic Model ◽  
Autosomal Recessive Inheritance ◽  
P Value ◽  
Recessive Mutations ◽  
Nominal Significance ◽  
The Central Nervous System

AbstractAutozygosity, meaning inheritance of an ancestral allele in the homozygous state is known to lead bi-allelic mutations that manifest their effects through the autosomal recessive inheritance pattern. Autosomal recessive mutations are known to be the underlying cause of several Mendelian metabolic diseases, especially among the offspring of related individuals. In line with this, inbreeding coefficient of an individual as a measure of cryptic autozygosity among the general population is known to lead adverse metabolic outcomes including Type 2 diabetes (T2DM); a multifactorial metabolic disease for which the recessive genetic causes remain unknown. In order to unravel such effects for multiple metabolic facades of the disease, we investigated the relationship between the excess of homozygosity and the metabolic signature of T2DM. We included a set of 53 metabolic phenotypes, including 47 metabolites, T2DM and five T2DM risk factors, measured in a Dutch genetic isolate of 2,580 people. For 20 of these markers, we identified 29 regions of homozygous (ROHs) associated with the nominal significance of P-value < 1.0 × 10−3. By performing association according to the recessive genetic model within these selected regions, we identified and replicated two intronic variants: rs6759814 located in KCNH7 associated with valine and rs1573707 located in PTPRT associated with IDL-free cholesterol and IDL-phospholipids. Additionally, we identified a rare intronic SNV in TBR1 for which the homozygous individuals were enriched for obesity. Interestingly, all three genes are mainly neuronally expressed and pointed out the involvement of glutamergic synaptic transmission pathways in the regulation of metabolic pathways. Taken together our study underline the additional benefits of model supervised analysis, but also seconds the involvement of the central nervous system in T2DM and obesity pathogenesis.

scholarly journals The genetic aspect and morphological appearance of achondrogenesis

2017 ◽  
Vol 6 (8) ◽  
pp. 3203 ◽  
Author(s):  
Mauritius Lambertus Edy Parwanto
Keyword(s):  
Autosomal Recessive ◽  
Thyroid Hormone Receptor ◽  
Small Body ◽  
Periodic Acid ◽  
Severe Form ◽  
Long Bones ◽  
Sulfate Transporter ◽  
Periodic Acid Schiff ◽  
Vertebral Bodies

Achondrogenesis (ACG) is a number of disorders that are the most severe form of congenital chondrodysplasia characterized with bones and cartilage malformation. Generally, characteristic of ACG is a small body, short limbs, and other skeletal abnormalities. As a result of infants with ACG their serious health problems, usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Currently 3 type variants of ACG such as ACG-1A, ACG-1B and ACG-2. ACG-1A appears to be autosomal recessive (AR), with thyroid hormone receptor interactor 11 (TRIP11) gen mutation, while ACG1B also appears to be AR, with diastrophic dysplasia sulfate transporter or DTDST (SLC26A2) gen mutation. ACG-2 is caused by autosomal dominant (AD), with type 2 collagen (COL2A1) gen mutation. ACG-1A had characterizid such as physis abnormal, vertebral bodies with unossified or smal and oval, skull poorly ossified, periodic acid–Schiff (PAS) stain positive chondrocyte inclusions finding in long bones. ACG-1B had physis abnormal, vertebral bodies with unossified or smal and oval, skull ossified, perichondrocyte collagen rings finding in long bones. ACG-2 also had physis abnormal, metaphyseal cupping, vertebral bodies with unossified or small and oval, enlarged chondrocyte lacunae.

scholarly journals Pulmonary hyalinosis in captive sugar gliders (Petaurus breviceps)

2017 ◽  
Vol 29 (5) ◽  
pp. 691-695 ◽  
Author(s):  
Set A. Sokol ◽  
Dalen W. Agnew ◽  
Anne D. Lewis ◽  
Teresa L. Southard ◽  
Andrew D. Miller
Keyword(s):  
Periodic Acid ◽  
Clinical Signs ◽  
Polarized Light ◽  
Granulomatous Inflammation ◽  
Crystal Violet Staining ◽  
Periodic Acid Schiff ◽  
Petaurus Breviceps ◽  
Oil Red O Staining ◽  
Oil Red O ◽  
Hyaline Material

Pulmonary hyalinosis is an idiopathic, typically incidental lesion of old dogs, characterized by multifocal aggregates of epithelioid and multinucleate macrophages that surround periodic acid–Schiff (PAS)-positive hyaline material in airways. Lung lesions resembling pulmonary hyalinosis were observed in 6 captive adult sugar gliders ( Petaurus breviceps; 5 females and 1 male) in a retrospective review of 18 autopsied animals. Clinical signs for 3 of the sugar gliders included lethargy, tachypnea, and dyspnea. At autopsy, 5 of 6 animals had comorbid lesions that were the primary cause of death. Gross pulmonary lesions were characterized by mildly firm, discolored, vaguely nodular areas of parenchyma. Histologic examination of the lung revealed granulomatous inflammation with intracellular and extracellular amphophilic hyaline bodies within alveoli and airways. Hyaline bodies were positive for PAS and oil red O staining, blue via crystal violet staining, and displayed birefringence under polarized light, similar to findings in dogs with pulmonary hyalinosis.

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