by Yohanes Ridora  , Niken Trisnowati  and Retno Danarti

Received: 05 February 2024;  Published: 19 April 2024;  doi: 10.21926/obm.genet.2402229

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by increased sensitivity to ultraviolet radiation, leading to severe skin manifestations and a higher risk of early-onset malignancies. Previous studies from temperate climate countries with sound economic levels showed adequate photoprotection compliance among pediatric XP patients. However, no studies have assessed photoprotection compliance among children with XP living in tropical and low-economic settings. This article reports a low photoprotect [...]

by Luis A. Méndez-Rosado  , Alicia Vaglio  , Roberto Lardoeyt-Ferrer  , Albertino Candimba-Sebastiao  , Judith Pupo-Balboa  , Ivan Y. Iourov  and Alejandro Esperon

Received: 19 March 2024;  Published: 24 June 2024;  doi: 10.21926/obm.genet.2402247

Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficul [...]

by Mohammad-Reza Ghasemi  , Maryam Mirahmadi  , Hadi Bayat  , Mohammad Miryounesi  , Reza Mirfakhraie  , Shadab Salehpour  , Raheleh Tangestani  , Faezeh Sherafat  , Hasan Roudgari  and Milad Gholami

Received: 16 January 2025;  Published: 21 May 2025;  doi: 10.21926/obm.genet.2502294

Kabuki Syndrome (KS) is a rare, multisystem congenital disorder with five foremost clinical manifestations encompassing dysmorphic facial characteristics, postnatal growth constraint, craniofacial/skeletal anomalies, mild to moderate intellectual disability, and dermatoglyphic abnormalities. We analyzed two unrelated Iranian patients suspected of having KS using whole-exome sequencing. An in silico analysis was performed to evaluate the potential effects of the discovered variants on the structure and function of t [...]

by Olubunmi Yemisi Fashoto  , Maureen Nokuthula Sibiya  and Olanrewaju Oladimeji

Received: 09 July 2024;  Published: 08 November 2024;  doi: 10.21926/obm.neurobiol.2404253

The availability and utilization of digital technologies can leverage the challenges of the sharp-depleting workforce due to the consistent migration of healthcare professionals (HCPs), the alarming ratio of the number of patients to HCPs, discretional use of digital technologies among HCPs in providing effective therapeutic interventions and mental healthcare services. This study aimed to develop an operational model that integrates digital technologies in mental healthcare service delivery for public facilities i [...]

by Chandra Sekhar Devulapalli

Received: 07 July 2021;  Published: 22 July 2021;  doi: 10.21926/obm.hg.2103059

Non-celiac gluten sensitivity (NCGS) is a debatable condition that affects less than 6% of children. The absence of specific diagnostic markers and standardized diagnostic procedures make the diagnosis of NCGS challenging, covering patients with different and varied symptoms. Generally, the parents of small and younger children introduce a gluten-free diet (GFD) based on their personal experiences and expectations. Additionally, a “fad component” exists, contributing to the recent rise in the popularity of GFD. Thu [...]

by Che Aishah Nazariah Ismail  , Nazlahshaniza Shafin  , Khairunnuur Fairuz Azman  , Idris Long  and Nor Syafinaz Yaakob

Received: 28 September 2024;  Published: 09 April 2025;  doi: 10.21926/obm.neurobiol.2502283

Chronic pain is a significant and global healthcare issue that hugely implies the quality of life and productivity of the affected individuals. It is challenging to treat and thus necessitates a deeper understanding of its underlying pathomechanisms to develop targeted interventions. Serotonin is one of the essential neurotransmitters involved in the propagation of pain signals through both ascending and descending pathways, acting via various receptor subtypes, including the 5-hydroxytryptamine receptor-6 (5-HT6R) [...]

by Atsushi Naganuma  , Satoru Kakizaki  , Takashi Hoshino  , Toshiyuki Tanaka  , Tetsushi Ogawa  , Shuya Sawada  , Satomi Adachi  , Yusuke Ogawa  , Toyoshi Sasaki  , Ken Sato  , Hitoshi Takagi  and Toshio Uraoka

Received: 25 September 2018;  Published: 26 December 2018;  doi: 10.21926/obm.hg.1804011

Background: Branched-chain amino acids (BCAA) are nutrients with a bitter taste, which causes low compliance in patients who need BCAA supplementation. Moreover, chronic liver disease is frequently complicated by taste impairment. The present study was designed to improve patient noncompliance regarding nutrients in liver disease. Methods: A taste questionnaire was administered to healthy controls, chronic hepatitis patients, and cirrhotic patients. Eleven different flavored powders that can be added to BCAA nutri [...]

by James David Adams

Received: 22 August 2023;  Published: 11 January 2024;  doi: 10.21926/obm.icm.2401009

Many websites are dedicated to educating the public about chronic pain and its management. The majority of these websites say there is no cure for chronic pain, but encourage patients to try exercise, diet, stress reduction and other techniques to decrease the severity of chronic pain. Patients are also taught to use oral or injected drugs to treat their chronic pain. This can be dangerous and leads to adverse events and death in some patients. The majority of these websites teach patients that chronic pain comes f [...]

by Zongqi Guo  and Wenxu Wei

Received: 12 January 2024;  Published: 12 April 2024;  doi: 10.21926/rpm.2402010

Ceramic bonds are conventionally formed during the burning of refractory bricks and by using pre-fabricated blocks or monolithic lining, which is characterized as the coalescence of the particles by liquid sintering. However, the whisker bond was discovered with the outstanding performance of unburnt periclase–spinel–Al bricks while substituting magnesia–chrome bricks in the chromium-free campaign of refractory lining of RH degassers. Thanks to the prominent effect of the whisker bond, such a refr [...]

by Faten Dhawi  and Shefin Basheera

Received: 12 March 2025;  Published: 25 May 2025;  doi: 10.21926/obm.genet.2502295

Jatropha curcas L., a medicinal shrub renowned for its diverse phytochemicals, has been traditionally used to treat various ailments, including ulcers, neoplasms, and dermatological conditions. Despite its pharmacological promise, its potential against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) remains unexplored. This study investigates the antiviral efficacy of J. curcas phytochemicals targeting the SARS-CoV-2 main protease (Mpro), a critical enzyme for viral replication, using advanced computat [...]