Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia. We present a case of bradet-biedl syndrome presenting with intellectual disabilities, post-axial polydactyly, gingival hyperplasia, and a significant family history of scleroderma. The diagnosis was determined based on clinical physical examination findings. The patient is undergoing treatment with Thyroxine. Although medical staff are incapable of treatment, systems support adjust the overall well-being and quality of life for individuals with Bardet-Biedl syndrome and their families.

开始日期2024-10-12

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Al Baath University

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2024-10-01·Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy

Spectroscopic characterization of fluorite of Amba Dongar, Gujarat, India: Linking chemical composition with color

Article

作者: Shukla, Anil D ; Madhavan, N ; Bhui, Uttam K ; Ray, Dwijesh ; Almohammed, Ali H

This work addresses the long-standing debate surrounding the origin of color variation in fluorite (CaF₂) through a novel quantitative approach. By examining eight carefully selected fluorite samples having different hue of colors from the Amba Dongar mine in Gujarat, India, a rigorous quantitative analysis was conducted. This approach combined chemical compositional data and optical spectroscopic features to elucidate the relationship between elemental composition, concentration, and color variation in fluorite. Precise elemental concentration data for trace transition metals, alkali metals, and rare earth elements (REEs) were obtained through inductively coupled plasma mass spectroscopy (ICP-MS) analysis of powdered fluorite samples. Optical spectroscopic techniques, including UV-visible absorption, emission (photoluminescence and fluorescence), and Raman spectroscopy, were employed to capture characteristic spectral signatures for specific color of the study sample. The work unveils a strong correlation between specific elemental concentrations and observed spectral features, particularly influenced by alkaline metals, transition group elements, and REEs. Fluorite's optical absorption behavior lacks a clear pattern in UV and infrared wavelength ranges but correlates well with transition metal, alkaline element, and REE concentrations in visible wavelength regions, influencing coloration. Luminescent centers in the study fluorite samples correspond to specific REE concentrations, indicating a strong linkage between emission wavelengths with the presence of specific REE. UV-visible and fluorescence in fluorite result from trivalent REE or Eu²⁺ ions, with emission intensity affected by REE concentration and specific REE or combinations thereof. Raman spectroscopy identifies characteristic modes related to F-substitution and REE impurities, providing insights into fluorite's structural composition. This quantitative correlation between elemental composition and spectroscopic characteristics represents a novel contribution for understanding color variation mechanisms in fluorite. The comprehensive analysis of this present work underscores the intricate interplay of mineral composition, and element concentration particularly alkaline metals, transition group elements, and REEs, for variation in spectral signatures with variation in fluorite's visual attributes.

2024-10-01·International Journal of Surgery Case Reports

Incidental discovery of asymptomatic low-grade mucinous appendiceal tumor during paraumbilical hernia repair: A case report emphasizing intraoperative vigilance

Article

作者: Rahal, Majed Abdul Karim ; Fathallah, Ibrahim ; Alajrd, Abd Alrhman ; Alsodi, Zeina ; Alkheder, Ahmad

INTRODUCTIONMucinous appendiceal tumor is an exceptionally rare and indolent epithelial neoplasm characterized by the production of mucin within the appendix. Here we present a rare case of a large, asymptomatic mucinous appendiceal tumor discovered incidentally during repair of a paraumbilical hernia.CASE PRESENTATIONA 73-year-old man with a complex medical history presented with epigastric pain, nausea, vomiting, and constipation. Diagnosed with a strangulated paraumbilical hernia. During hernia repair surgery, a low-grade mucinous appendiceal tumor was accidentally discovered. Post-operative monitoring over 18 months, including colonoscopy and CT scans, showed no recurrence.DISCUSSIONAppendiceal primary tumors, though rare, can originate from neuroendocrine or epithelial cells. Epithelial tumors, including mucinous adenocarcinoma, produce mucin, potentially leading to pseudomyxoma peritonei, characterized by mucinous ascites and abdominal swelling. These tumors are often incidentally discovered during surgery, as symptoms are nonspecific, resembling acute appendicitis or causing abdominal distension. Diagnosis requires histopathology, revealing mucin accumulation and irregular glandular structures. Treatment typically involves cytoreductive surgery with hyperthermic intraperitoneal chemotherapy to manage the condition effectively.CONCLUSIONThis case emphasizes the critical need for intraoperative vigilance and histopathological analysis in detecting appendiceal mucinous tumors during abdominal surgery, ensuring accurate diagnosis and favorable outcomes.

2024-08-01·Heliyon

Genetic algorithm multiple linear regression and machine learning-driven QSTR modeling for the acute toxicity of sterol biosynthesis inhibitor fungicides

Article

作者: Safaie, Naser ; Gholivand, Khodayar ; Abbod, Mohsen

Sterol Biosynthesis Inhibitors (SBIs) are a major class of fungicides used globally. Their widespread application in agriculture raises concerns about potential harm and toxicity to non-target organisms, including humans. To address these concerns, a quantitative structure-toxicity relationship (QSTR) modeling approach has been developed to assess the acute toxicity of 45 different SBIs. The genetic algorithm (GA) was used to identify key molecular descriptors influencing toxicity. These descriptors were then used to build robust QSTR models using multiple linear regression (MLR), support vector regression (SVR), and artificial neural network (ANN) algorithms. The Cross-validation, Y-randomization test, applicability domain methods, and external validation were carried out to evaluate the accuracy and validity of the generated models. The MLR model exhibited satisfactory predictive performance, with an R² of 0.72. The SVR and ANN models obtained R² values of 0.7 and 0.8, respectively. ANN model demonstrated superior performance compared to other models, achieving R² _cv and R² _test values of 0.74 and 0.7, respectively. The models passed both internal and external validation, indicating their robustness. These models offer a valuable tool for risk assessment, enabling the evaluation of potential hazards associated with future applications of SBIs.

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2022-11-15

·PRNewswire

Hani Kador, MD, FACC, is recognized by Continental Who's Who

GROSSE POINTE PARK, Mich., Nov. 15, 2022 /PRNewswire/ -- Hani Kador, MD, FACC, is being recognized by Continental Who's Who as a Trusted Healthcare Professional in the Medical field and in acknowledgment of his outstanding work at Eastside Cardiovascular Medicine. Continue Reading Hani Kador With 14 years of experience in medicine, Dr. Kador is a board-certified, fellowship-trained interventional cardiologist affiliated with Eastside Cardiovascular Medicine in Roseville, MI. He can also be found on staff at Beaumont Hospital Grosse Pointe. As an interventional cardiologist, the doctor sees patients who typically are in life and death situations. He treats patients for cardiovascular disease, peripheral artery disease, arrhythmia, heart attacks, pulmonary embolisms, and blockages. He is very responsive to his patient's needs, forming personal relationships with them. Cardiology is a branch of medicine that deals with the disorders of the heart and some parts of the circulatory system. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart disease, and electrophysiology. Cardiologists are doctors who diagnose, assess, and treat patients with diseases and defects of the heart and blood vessels (the cardiovascular system). A native of Syria, Dr. Kador graduated in 2005 with his Medical Doctor degree (M.D.) from Al-Baath University, where he ranked as one of the top three graduates in his class. Upon relocating to the United States, he completed his residency in internal medicine and was Chief Resident at the Ascension St. John's Medical Center. in 2012. Wanting to further his education, he completed two consecutive fellowships in cardiovascular disease and interventional cardiology at the same academic institution in 2016 and 2017, respectively. Recognized as a member of the American College of Physicians (ACP) and a Fellow of the American College of Cardiology (FACC), the doctor is board certified in internal medicine, general cardiology, interventional cardiology, echocardiography, and nuclear imaging. On a personal note, Dr. Kador is fluent in English and Arabic. Dr. Kador dedicates this recognition to the loving memory of his father, Faiez Kador. For more information, visit . SOURCE Continental Who's Who