scholarly journals A rare case of Hermansky-Pudlak Syndrome with bruise and mellitus diabetes

2021 ◽  
Vol 1 (2) ◽  
pp. 032-034
Author(s):  
Dinesh Kumar M ◽  
Akshitha Rani Siby ◽  
Khayati Moudgil

Albinism is a hereditary disorder that causes decreased pigmentation (coloring) in the body. As a consequence, albinism individuals are mostly fair-skinned with light hair known as oculocutaneous albinism. Skin, hair and color of the eye may vary, however, as some people with albinism may have dark brown hair and green or hazel / blue eyes. In both cases, poor vision and varying degrees of nystagmus (uncontrolled side-to-side eye movements) are observed. Everyone with HPS has albinism but not all people with albinism have HPS. We recorded a case with multiple comorbidities of a 37-year-old female patient with Hermansky-Pudlak syndrome (HPS) here

2020 ◽  
Vol 15 (3) ◽  
pp. 222-226 ◽  
Author(s):  
Asha K. Rajan ◽  
Ananth Kashyap ◽  
Manik Chhabra ◽  
Muhammed Rashid

Rationale: Linezolid (LNZ) induced Cutaneous Adverse Drug Reactions (CADRs) have rare atypical presentation. Till date, there are very few published case reports on LNZ induced CADRs among the multidrug-resistant patients suffering from Infective Endocarditis (MDR IE). Here, we present a rare case report of LNZ induced CARs in a MDR IE patient. Case report: A 24-year-old female patient was admitted to the hospital with chief complaints of fever (101°C) associated with rigors, chills, and shortness of breath (grade IV) for the past 4 days. She was diagnosed with MDR IE, having a prior history of rheumatic heart disease. She was prescribed LNZ 600mg IV BD for MDR IE, against Staphylococcus coagulase-negative. The patient experienced flares of cutaneous reactions with multiple hyper-pigmented maculopapular lesions all over the body after one week of LNZ therapy. Upon causality assessment, she was found to be suffering from LNZ induced CADRs. LNZ dose was tapered gradually and discontinued. The patient was prescribed corticosteroids along with other supportive care. Her reactions completely subsided and infection got controlled following 1 month of therapy. Conclusion: Healthcare professionals should be vigilant for rare CADRs, while monitoring the patients on LNZ therapy especially in MDR patients as they are exposed to multiple drugs. Moreover, strengthened spontaneous reporting is required for better quantification.


2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  

1985 ◽  
Vol 54 (4) ◽  
pp. 887-899 ◽  
Author(s):  
W. Graf ◽  
R. Baker

The flatfish species constitute a natural paradigm for investigating adaptive changes in the vertebrate central nervous system. During metamorphosis all species of flatfish experience a 90 degree change in orientation between their vestibular and extraocular coordinate axes. As a result, the optic axes of both eyes maintain their orientation with respect to earth horizontal, but the horizontal semicircular canals become oriented vertically. Since the flatfish propels its body with the same swimming movements when referenced to the body as a normal fish, the horizontal canals are exposed to identical accelerations, but in the flatfish these accelerations occur in a vertical plane. The appropriate compensatory eye movements are simultaneous rotations of both eyes forward or backward (i.e., parallel), in contrast to the symmetric eye movements in upright fish (i.e., one eye moves forward, the other backward). Therefore, changes in the extraocular muscle arrangement and/or the neuronal connectivity are required. This study describes the peripheral and central oculomotor organization in the adult winter flounder, Pseudopleuronectes americanus. At the level of the peripheral oculomotor apparatus, the sizes of the horizontal extraocular muscles (lateral and medial rectus) were considerably smaller than those of the vertical eye muscles, as quantified by fiber counts and area measurements of cross sections of individual muscles. However, the spatial orientations and the kinematic characteristics of all six extraocular muscles were not different from those described in comparable lateral-eyed animals. There were no detectable asymmetries between the left and the right eye. Central oculomotor organization was investigated by extracellular horseradish peroxidase injections into individual eye muscles. Commonly described distributions of extraocular motor neurons in the oculomotor, trochlear, and abducens nuclei were found. These motor neuron pools consisted of two contralateral (superior rectus and superior oblique) and four ipsilateral populations (inferior oblique, inferior rectus, medial rectus, and lateral rectus). The labeled cells formed distinct motor neuron populations, which overlapped little. As expected, the numbers of labeled motoneurons differed in horizontal and vertical eye movers. The numerical difference was especially prominent in comparing the abducens nucleus with one of the vertical recti subdivisions. Nevertheless, there was bilateral symmetry between the motoneurons projecting to the left and right eyes.(ABSTRACT TRUNCATED AT 400 WORDS)


2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Barton Huang ◽  
Annie Mooser ◽  
Danielle Carpenter ◽  
Grace Montenegro ◽  
Carrie Luu

Endometriosis is a relatively common condition among women, and pancreatic endometriosis has been reported on rare occasions. Such pancreatic lesions are difficult to diagnose and distinguish from other cystic lesions of the pancreas preoperatively. This report describes a case of pancreatic endometriosis in a 51-year-old female patient. Imaging demonstrated an enlarging cyst with findings concerning for a mucinous neoplasm. The patient underwent robotic distal pancreatectomy and splenectomy. Histopathology revealed an endometriotic cyst. Pancreatic endometriosis can be difficult to distinguish from other lesions of the pancreas. Surgical resection should be undertaken in cases where malignancy is suspected.


2021 ◽  
Vol 12 ◽  
Author(s):  
Pamela Velázquez-Díaz ◽  
Erika Nakajima ◽  
Parand Sorkhdini ◽  
Ashley Hernandez-Gutierrez ◽  
Adam Eberle ◽  
...  

Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis. HPS pulmonary fibrosis (HPS-PF) occurs in 100% of patients with subtype HPS-1 and has a similar presentation to idiopathic pulmonary fibrosis. Upon onset, individuals with HPS-PF have approximately 3 years before experiencing signs of respiratory failure and eventual death. This review aims to summarize current research on HPS along with its associated pulmonary fibrosis and its implications for the development of novel treatments. We will discuss the genetic basis of the disease, its epidemiology, and current therapeutic and clinical management strategies. We continue to review the cellular processes leading to the development of HPS-PF in alveolar epithelial cells, lymphocytes, mast cells, and fibrocytes, along with the molecular mechanisms that contribute to its pathogenesis and may be targeted in the treatment of HPS-PF. Finally, we will discuss emerging new cellular and molecular approaches for studying HPS, including lentiviral-mediated gene transfer, induced pluripotent stem cells (iPSCs), organoid and 3D-modelling, and CRISPR/Cas9-based gene editing approaches.


2013 ◽  
Vol 5 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Arpan Kumar Dey ◽  
Pijush Kanti Mandal ◽  
Agnibha Dutta ◽  
Subhraprakash Pramanik ◽  
Saurabh Maji ◽  
...  

Hydatid cyst may be found in almost any part of the body, but most often in the liver and the lungs. Other organs affected occasionally include the brain, muscle, kidney, heart, pancreas, adrenal, and thyroid gland. Hydatidosis located in the thyroid is an infrequent finding, even in endemic regions. This report documents a rare case with a cystic nodule in the thyroid detected by ultrasonography. The patient was a 30-year-old woman with an euthyroid multinodular goitre. Ultrasonography revealed a cystic nodule, and the ultrasonic appearance of the cyst liquid showed multiple echoes, suggesting that the nodule could be a hydatid cyst. The histopathologic examinations confirmed this to be a primary hydatid cyst of thyroid. During the differential diagnosis of the cystic thyroid lesions, hydatid disease of the thyroid gland should be considered in endemic areas. Chemotherapy is necessary to avoid recurrence. DOI: http://dx.doi.org/10.3126/ajms.v5i2.8830 Asian Journal of Medical Science, Volume-5(2) 2014: 143-145


2020 ◽  
pp. 30-30
Author(s):  
Valeti Rajeswari ◽  
Kolluru V D Karthik ◽  
Srinivasula Sriranga Pravallika

Honey bee sting induced Cerebral infarction is a rare entity . We report a case of 55year old male presented with anaphylactic shock following honey bee sting along with weakness of left side of the body and the face . He was managed with anti histaminics, adrenaline injections, Intravenous fluids , vasopressors , anti platelets and anticoagulants .


2020 ◽  
Vol 7 (1) ◽  
pp. 15
Author(s):  
John G Weichsler ◽  
Shane Starr

We present a rare case of a lipoleiomyoma which was discovered incidentally in a hysterectomy specimen of a 74-year old female patient who underwent surgery for a biopsy proven serous adenocarcinoma of the uterus. Lipoleiomyomas represent uncommon, usually benign soft-tissue tumors, generally found in obese menopausal as well as postmenopausal women aged 50 to 70 years. The reported incidence varies from 0.03\% to 0.2\%. The relationship between lipoleiomyomas and gynecologic malignancies has only been reported in a few cases. We report this case of lipoleiomyoma due to its rarity and its association with a serous adenocarcinoma in our patient.


Acarologia ◽  
2019 ◽  
Vol 59 (1) ◽  
pp. 21-25
Author(s):  
Navpreet Kaur ◽  
Pawan Prasher ◽  
Khushhal Kumar ◽  
Sakshi Dhingra

An 82-year-old female patient with painful, watery, and itchy eyes was admitted for examination at the Sri Guru Ramdas Institute of Medical Sciences and Research. During the examination, a number of tick larvae were found attached to the patient’s upper and lower eyelid margins. The ticks were manually removed and the patient was treated with topical ciprofloxacin eye ointment. Microscopic studies revealed that all specimens belonged to a single species Rhipicephalus (Boophilus) microplus Canestrini (Acari: Ixodidae) which parasitizes livestock. Although other cases of ocular infestations have been reported, this is the first in North India involving R. (B.) microplus. It is speculated that the patient’s occupation, surrounding conditions and living propensities made her susceptible to contamination by ticks.


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