Ochronosis, the Rare Cause of Herniation of a Disc: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 161-166
Author(s):  
Ali Baradaran Bagheri ◽  
◽  
Farsad Biglari ◽  
Somayeh Soroureddin ◽  
Salman Azarsina ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Genetic Disorder ◽  
Radicular Pain ◽  
Homogentisic Acid ◽  
The Body ◽  
Leg Pain ◽  
Cartilage Tissue ◽  
Acid Oxidase ◽  
Oxidase Deficiency ◽  
Progressive Muscle Weakness

Background and Importance: Alkaptonuria is a rare genetic disorder due to homogentisic acid oxidase deficiency which eventuates in the reposition of homogentisic acid in different parts of the body and multi-organ involvements. The characteristic bluish-black discoloration of the skin and cartilage tissue is known as ochronosis. Case Presentation: Herein, we reported a 45-year-old woman with chronic pain in the lumbar area and radicular pain in her left leg, aggravating gradually during the previous six months before the operation. She also suffered from progressive muscle weakness in her left lower extremity. The patient was operated for prolapsed disc herniation. Macroscopically, no abnormality of the skin, muscles, or ligaments was observed during surgery. After incision of the annulus in level L3-L4, surprisingly the excised nucleus pulposus was black. The alkaptonuria was diagnosed after histopathological examination of the black disc material and confirmed by urinalysis. Conclusion: The postoperative course was uneventful and the patient was free from low back pain and leg pain after surgery. In patients without any manifestations of alkaptonuria or ochronosis such as our case, timely diagnosis of this pathologic condition is momentous for investigation, treatment, and prevention of other organs’ involvement.  

scholarly journals Hailey Hailey-a blooming disease

2021 ◽  
Vol 7 (2) ◽  
pp. 285
Author(s):  
Ilakkia P. Sadasivam ◽  
Govardhan Jagadeeshkumar ◽  
Oudeacoumar Paquirissamy ◽  
Jude E. Dileep ◽  
Rajkiran Takharya ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Genetic Disorder ◽  
Geographical Area ◽  
Family Members ◽  
The Body ◽  
Topical Steroids ◽  
Brick Wall ◽  
Rare Genetic Disorder ◽  
The Common

<p>Hailey Hailey disease (HHD) is a rare genetic disorder which is more common in summers. It involves intertriginous areas of the body. Axilla, abdomen, back, nape of neck are the common sites involved. We hereby present three patients of HHD from same geographical area with no blood relation. Two of them had other family members also involved with the similar complaints. One of the patients is 50 years of age. Diagnosis was done both by clinical and histopathological examination. It showed epidermis with intraepidermal bulla and acantholytic keratinocytes giving dilapidated brick wall appearance. Treatment mainly used was topical steroids &amp;antihistamines and patients responded well.</p>

scholarly journals Sequential tendon ruptures in ochronosis: case report

2017 ◽  
Vol 3 (6) ◽  
pp. 1235
Author(s):  
E. G. Mohan Kumar ◽  
G. M. Yathisha Kumar
Keyword(s):  
Connective Tissue ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Degradation Pathway ◽  
Homogentisic Acid ◽  
The Body ◽  
Acid Oxidase ◽  
Connective Tissues ◽  
Dark Pigmentation ◽  
Tendon Ruptures

<p>Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in the connective tissues leading to dark pigmentation of connective tissue in patients with alkaptonuria. HGA deposits in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Only few cases are reported in the literature with multiple tendon rupture but many case reports are available with isolated rupture of tendons. We report on a patient with sequential tendon ruptures in a patient. The case is reported for its rarity.</p>

Electron Microscopic and Isozyme Study of a Case of Ochronosis

1972 ◽  
Vol 30 ◽  
pp. 88-89
Author(s):  
Jay W. Cha ◽  
Perry J. Melnick
Keyword(s):  
Benzene Ring ◽  
Enzyme System ◽  
Homogentisic Acid ◽  
Degenerative Changes ◽  
Acid Oxidase ◽  
Electron Microscopic ◽  
Tyrosine Metabolism ◽  
Collagenous Tissues

Hereditary ochronosis in very few cases has been examined electron microscopically or histochemically. In this disease homogentisic acid, a normal intermediary of tyrosine metabolism, forms in excessive amounts. This is believed to be due to absence or defective activity of homogentisic acid oxidase, an enzyme system necessary to break the benzene ring and to further break it down to fumaric and acetoacetic acids. Ochronotic pigment, a polymerized form of homogentisic acid, deposits mainly in mesenchymal tissues. There has been a question whether the pigment originates from the collagenous tissues, or deposits passively, where in contrast to melanin it induces degenerative changes.

scholarly journals The effects of nano-curcumin as a nutritional strategy on clinical and inflammatory factors in children with cystic fibrosis: the study protocol for a randomized controlled trial

Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Saeedeh Talebi ◽  
Mahammad Safarian ◽  
Mahmood Reza Jaafari ◽  
Seyed Javad Sayedi ◽  
Zahra Abbasi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Controlled Trial ◽  
Genetic Disorder ◽  
The Body ◽  
Inflammatory Factors ◽  
Secondary Outcome ◽  
Nasopharyngeal Swab ◽  
Nutritional Strategy ◽  
Cftr Protein ◽  
The Impact

Abstract Background Cystic fibrosis (CF) is a genetic disorder, which is caused by the CFTR protein defects. Along with CFTR dysfunction, inflammation plays a key role in the disease outcomes. Inflammation may develop due to the internal dysfunction of the CFTR protein or external factors. Curcumin affects the CFTR protein function primarily as a corrector and potentiator and secondary as an anti-inflammatory and antimicrobial agent. The present study aims to assess the impact of nano-curcumin on clinical and inflammatory markers in children with CF. Methods This prospective, double blind control trial will be conducted at the Akbar Children’s Hospital in Mashhad, Iran. Children with CF will be enrolled based on the eligibility criteria. Placebo and curcumin with the maximum dose of 80 mg considering the body surface of the patients will be administrated for 3 months. The primary outcome is to evaluate inflammation based on serum interleukin-6, interleukin-10, and hs-CRP, stool calprotectin, and neutrophil count of nasopharyngeal swab. The secondary outcome involved clinical assessment via spirometry, anthropometrics, and quality of life. They will be assessed before and after 3 months. Discussion Due to the multifarious effects of curcumin on CF disease, it could be proposed as a nutritional strategy in the treatment of cystic fibrosis. Trial registration Iranian Registry of Clinical Trials IRCT20200705048018N1. Registered on July 10, 2020.

scholarly journals Hyaluronate/black phosphorus complexes as a copper chelating agent for Wilson disease treatment

2021 ◽  
Vol 25 (1) ◽  
Author(s):  
Seong-Jong Kim ◽  
Hye Hyeon Han ◽  
Sei Kwang Hahn
Keyword(s):  
Targeted Delivery ◽  
Wilson Disease ◽  
Copper Ions ◽  
Binding Capacity ◽  
Genetic Disorder ◽  
Chelating Agent ◽  
Black Phosphorus ◽  
The Body ◽  
Copper Binding

Abstract Background Wilson disease (WD) is a genetic disorder of copper storage, resulting in pathological accumulation of copper in the body. Because symptoms are generally related to the liver, chelating agents capable of capturing excess copper ions after targeted delivery to the liver are highly required for the treatment of WD. Methods We developed hyaluronate-diaminohexane/black phosphorus (HA-DAH/BP) complexes for capturing copper ions accumulated in the liver for the treatment of WD. Results HA-DAH/BP complexes showed high hepatocyte-specific targeting efficiency, selective copper capturing capacity, excellent biocompatibility, and biodegradability. HA enhanced the stability of BP nanosheets and increased copper binding capacity. In vitro cellular uptake and competitive binding tests verified targeted delivery of HA-DAH/BP complexes to liver cells via HA receptor mediated endocytosis. The cell viability test confirmed the high biocompatibility of HA-DAH/BP complexes. Conclusion HA-DAH/BP complexes would be an efficient copper chelating agent to remove accumulated copper in the liver for the WD treatment.

scholarly journals A Case of Incidental Schwannoma Mimicking Necrotic Metastatic Lymph Node from Bladder Cancer

Medicina ◽  
2021 ◽  
Vol 57 (7) ◽  
pp. 728
Author(s):  
Jeong-Hyouk Choi ◽  
Koo-Han Yoo ◽  
Dong-Gi Lee ◽  
Gyeong-Eun Min ◽  
Gou-Young Kim ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Metastatic Lymph Node ◽  
Imaging Study ◽  
Surgical Excision ◽  
The Body ◽  
Pathological Examination ◽  
Cystic Tumor ◽  
Complete Surgical Excision ◽  
Ultrasound Computed Tomography ◽  
Retroperitoneal Schwannoma

Background and Objectives: Retroperitoneal schwannoma is a very rare case of schwannoma which commonly occurs in the other part of the body. However, it is difficult to distinguish schwannoma from other tumors before pathological examination because they do not show specific characteristics on imaging study such as ultrasound, computed tomography (CT), and magnetic resonance image (MRI). Case summary: A 60-year-old male showed a retroperitoneal cystic tumor which is found incidentally during evaluation of coexisted bladder tumor. Neurogenic tumor was suspicious for the retroperitoneal tumor through pre-operative imaging study. Finally, a schwannoma was diagnosed by immunohistochemical examination after complete surgical excision laparoscopically. Conclusion: As imaging technology is developed, there may be more chances to differentiate schwannoma from other neoplasm. However, still surgical resection and histopathological examination is feasible for diagnosis of schwannoma.

Disentangling ‘sciatica’ to understand and characterise somatosensory profiles and potential pain mechanisms

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Brigitte Tampin ◽  
Christopher Lind ◽  
Angela Jacques ◽  
Helen Slater
Keyword(s):  
Mechanical Vibration ◽  
Radicular Pain ◽  
Leg Pain ◽  
Heat Sensitivity ◽  
Loss Of Function ◽  
Pain Mechanisms ◽  
Vibration Detection ◽  
Lumbar Radicular Pain ◽  
Pain Experiences ◽  
Pain Descriptors

Abstract Objectives The study aimed to investigate if patients with lumbar radicular pain only and those with combined lumbar radicular pain + radiculopathy differ in their somatosensory profiles and pain experiences. Methods Quantitative sensory testing (QST) was performed in 26 patients (mean age 47 ± 10 years, 10 females) with unilateral leg pain in the L5 or S1 distribution in their main pain area (MPA) and contralateral mirror side, in the relevant foot dermatome on the symptomatic side and in the hand dorsum. Pain experience was captured on the painDETECT. Results Eight patients presented with lumbar radicular pain only and 18 patients with combined radicular pain + radiculopathy. Patients with radicular pain only demonstrated widespread loss of function (mechanical detection) bilaterally in the MPA (p<0.003) and hand (p=0.002), increased heat sensitivity in both legs (p<0.019) and cold/heat sensitivity in the hand (p<0.024). QST measurements in the dermatome did not differ compared to HCs and patients with radiculopathy. Patients with lumbar radiculopathy were characterised by a localised loss of function in the symptomatic leg in the MPA (warm, mechanical, vibration detection, mechanical pain threshold, mechanical pain sensitivity p<0.031) and dermatome (mechanical, vibration detection p<0.001), consistent with a nerve root lesion. Pain descriptors did not differ between the two groups with the exception of numbness (p<0.001). Patients with radicular pain did not report symptoms of numbness, while 78% of patients with radiculopathy did. Conclusions Distinct differences in somatosensory profiles and pain experiences were demonstrated for each patient group, suggesting differing underlying pain mechanisms.

scholarly journals HOMOGENTISIC ACID OXIDASE

1955 ◽  
Vol 212 (2) ◽  
pp. 565-582
Author(s):  
Dana I. Crandall
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase
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