1.Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
Chen, Bee Chin ; Ngu, Lock Hock ; Zabedah, Md Yunus
The Malaysian Journal of Pathology 2010;32(2):87-95
Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder late-onset form. We investigated patients with hyperammonemia by a stepwise approach in which quantitative amino acids analysis was the core diagnostic procedure. Here, we describe the clinical phenotypes and biochemical characteristics in diagnosing this group of patients. We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute neonatal hyperammonemic encephalopathy had markedly elevated blood ammonia (> 430 micromol/L) within the first few days of life. Three patients with late-onset disease had more subtle clinical presentations and they developed hyperammonemia only during the acute catabolic state at two to twelve months of age. Their blood ammonia was mild to moderately elevated (> 75-265 micromol/L). The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease. To date, eleven patients remained well on a dietary protein restriction, oral ammonia scavenging drugs and arginine supplementation. The majority of them have a reasonable good neurological outcome.
Age of Onset
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Amino Acids/analysis
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Argininosuccinic Acid/blood
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Argininosuccinic Acid/urine
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Argininosuccinic Aciduria/*diagnosis
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Argininosuccinic Aciduria/*metabolism
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Argininosuccinic Aciduria/*physiopathology
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Malaysia
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Phenotype
2.Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children
Ngu Lock Hock ; Zabedah Md Yunus ; Keiko Kobayashi
The Malaysian Journal of Pathology 2010;32(1):53-57
Citrin defi ciency is an autosomal recessive disorder caused by mutation in the SLC25A13 gene.
It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic
cholestatic caused by citrin defi ciency (NICCD). NICCD is characterized by neonatal/infantile-onset
cholestatic hepatitis syndrome associated with multiple amino acidemia and hypergalactosemia.
NICCD is self-limiting in most patients. However, some patients may develop CTLN2 years later,
which manifests as fatal hyperammonemia coma. We report three unrelated Malay children with
genetically confi rmed NICCD characterised by an insertion mutation IVS16ins3kb in SLC25A13
gene. All 3 patients presented with prolonged neonatal jaundice which resolved without specifi c
treatment between 5 to 10 months. Of note was the manifestation of a peculiar dislike of sweet
foods and drinks. Elevated plasma citrulline was an important biochemical marker. NICCD should
be considered in the differential diagnosis of cholestatic jaundice in Malaysian infants regardless
of ethnic origin.
3.Separation of sulfated urinary glycosaminoglycans by highresolution electrophoresis for isotyping of mucopolysaccharidoses in Malaysia
Nor Azimah Azize ; Zabedah Md Yunus ; Norsiah Md Desa ; Ngu Lock Hock ; Suhaila Abd Rahman
The Malaysian Journal of Pathology 2010;32(1):35-42
Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the defi ciency of specifi c
lysosomal enzymes involved in glycosaminoglycans (GAGs) degradation. Currently, there are 11
enzyme defi ciencies resulting in seven distinct MPS clinical syndromes and their subtypes. Different
MPS syndromes cannot be clearly distinguished clinically due to overlapping signs and symptoms.
Measurement of GAGs content in urine and separation of GAGs using high-resolution electrophoresis
(HRE) are very useful initial screening tests for isotyping of MPS before specifi c enzyme diagnostics.
In this study, we measured total urinary GAGs by a method using dimethylmethylene blue (DMB),
and followed by isolation and separation of GAGs using high resolution electrophoresis (HRE)
technique. Of 760 urine samples analyzed, 40 have abnormal GAGs HRE patterns. Thirty-fi ve
of these 40 cases have elevated urinary GAGs levels as well. These abnormal HRE patterns could
be classifi ed into 4 patterns: Pattern A (elevated DS and HS; suggestive of MPS I, II or VII; 16
cases), Pattern B (elevated HS and CS; suggestive of MPS III; 17 cases), and Pattern C (elevated
KS and CS; suggestive of MPS IV, 5 cases), and Pattern D (elevated DS; suggestive of MPS VI;
2 cases). Based on the GAGs HRE pattern and a few discriminating clinical signs, we performed
selective enzymatic investigation in 16 cases. In all except one case with MPS VII, the enzymatic
diagnosis correlated well with the provisional MPS type as suggested by the abnormal HRE pattern.
Our results showed that GAGs HRE is a useful, inexpensive and practical fi rst-line screening test
when MPS is suspected clinically, and it provides an important guide to further enzymatic studies
on a selective basis.
4.Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance
Anasufiza Habib ; Nor Azimah Azize ; Yusnita Yakob ; Zabedah Md Yunus ; Wee Teik Keng
The Malaysian Journal of Pathology 2016;38(3):305-310
Lysinuric protein intolerance (LPI) is an inborn error of dibasic amino acid transport due to a defect
in the dibasic amino acid transporter in the renal and intestine and has a heterogenous presentation.
Three Malaysian patients with LPI were studied and their biochemical and molecular findings
compared. There were differences and similarities in the biochemical and molecular findings.
Molecular analysis of SLC7A7 gene revealed a novel mutation c.235G>A; p.(Gly79Arg) in exon
three in Patient 1 and a mutation c.1417C>T; p.(Arg473*) in exon 10 in patient 2 and 3. The degree
of concentration of dibasic amino acids may determine the type of disease of the cell membrane
transport, however, a positive molecular confirmation will secure the diagnosis.
5.Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
Lock Hock Ngu ; Md Yunus Zabedah ; Balasubramaniam Shanti ; Siao Hean Teh
The Malaysian journal of pathology 2008;30(2):109-14
We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.
2-methylacetoacetyl-coenzyme A
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deficiency
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Acetyl-CoA C-Acetyltransferase
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Biochemical
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Siblings
6.Solitary Fibrous Tumour of the Submandibular Region: A Rare Entity
Noor Liza Ishak ; Primuharsa Putra Sabir Athar Husin ; Suria Hayati Md Pauzi ; Isa Mohd Rose ; Mohd Razif Mohamad Yunus
Malaysian Journal of Medicine and Health Sciences 2016;12(2):60-63
Solitary fibrous tumours of the head and neck region are
extremely rare. The clinical diagnosis is often difficult to
establish, and this lesion may be indistinguishable from other
soft tissue neoplasms. An 18-year old Chinese gentleman
presented with a painless right submandibular swelling which
was increasing in size for eight months. A computed
tomography scan showed a well-defined solid mass measuring
about 2.0 x 2.96 cm in the submandibular region. The tumour
was resected and was confined within its capsule.
Immunohistochemical staining was strongly positive for CD34,
CD 99, and vimentin and negative for desmin, smooth muscle
actin (SMA), cytokeratin, S100 and CD68. The microscopic and
immunohistochemical profile were compatible with solitary
fibrous tumour. Distinguishing solitary fibrous tumours from
various spindle neoplasms can be difficult. In view of the
resemblance, immunohistochemical staining can help
differentiate solitary fibrous tumour from spindle neoplasm.
Neoplasms, Tumors, Cancer
7.Relationship between Demodex sp. Infestation and Acne Problem among Adults in Klang Valley, Malaysia
Chew Poh Ling ; Noor Hayati Mohd Isa ; Siti Nor Azreen Abdul Manap ; Ismail Mohd Ghauth ; Aisah Md Yunus
Malaysian Journal of Health Sciences 2010;8(1):45-48
Demodex sp. is a skin ectoparasite known as follicle mite. The objectives of this study were to determine the prevalence of Demodex sp. infestation among Malaysian adults with age ranges from 20 to 29 years old in Lembah Klang and to determine the relationship between the infestation status and gender and acne problem on face. This is the first study that has been conducted in Malaysia to determine the prevalence of Demodex sp. infestation. A total of 350 people participated in this study. Samples were selected by stratified random sampling. Skin scraping was carried out on
forehead, nose, cheeks and chin. All specimens were mounted in Hoyer’s medium and studied under light microscope. Questionnaires were distributed to the subjects to identify acne problem on their skin conditions. The overall prevalence of Demodex sp. infestation was 18.9% with higher prevalence in males (25.7%) compared to females (12.0%). There
was no significant difference between acne problem and Demodex sp. infestation. In conclusion, infestation of Demodex sp. was detected in a fifth of the subjects, with men had more problems.
8.A bioinformatics approach to characterize a hypothetical protein Q6S8D9_SARS of SARS-CoV
Md Foyzur RAHMAN ; Rubait HASAN ; Mohammad Shahangir BISWAS ; Jamiatul Husna SHATHI ; Md Faruk HOSSAIN ; Aoulia YEASMIN ; Mohammad Zakerin ABEDIN ; Md Tofazzal HOSSAIN
Genomics & Informatics 2023;21(1):e3-
Characterization as well as prediction of the secondary and tertiary structure of hypothetical proteins from their amino acid sequences uploaded in databases by in silico approach are the critical issues in computational biology. Severe acute respiratory syndrome–associated coronavirus (SARS-CoV), which is responsible for pneumonia alike diseases, possesses a wide range of proteins of which many are still uncharacterized. The current study was conducted to reveal the physicochemical characteristics and structures of an uncharacterized protein Q6S8D9_SARS of SARS-CoV. Following the common flowchart of characterizing a hypothetical protein, several sophisticated computerized tools e.g., ExPASy Protparam, CD Search, SOPMA, PSIPRED, HHpred, etc. were employed to discover the functions and structures of Q6S8D9_SARS. After delineating the secondary and tertiary structures of the protein, some quality evaluating tools e.g., PROCHECK, ProSA-web etc. were performed to assess the structures and later the active site was identified also by CASTp v.3.0. The protein contains more negatively charged residues than positively charged residues and a high aliphatic index value which make the protein more stable. The 2D and 3D structures modeled by several bioinformatics tools ensured that the proteins had domain in it which indicated it was functional protein having the ability to trouble host antiviral inflammatory cytokine and interferon production pathways. Moreover, active site was found in the protein where ligand could bind. The study was aimed to unveil the features and structures of an uncharacterized protein of SARS-CoV which can be a therapeutic target for development of vaccines against the virus. Further research are needed to accomplish the task.
9.Evidence-based management of isolated dentoalveolar fractures:a systematic review
Samriddhi BURMAN ; Babu LAL ; Ragavi ALAGARSAMY ; Jitendra KUMAR ; Ankush ANKUSH ; Anshul J. RAI ; Md YUNUS
Journal of the Korean Association of Oral and Maxillofacial Surgeons 2024;50(3):123-133
Dentoalveolar (DA) trauma, which can involve tooth, alveolar bone, and surrounding soft tissues, is a significant dentofacial emergency. In emergency settings, physicians might lack comprehensive knowledge of timely procedures, causing delays for specialist referral. This systematic review assesses the literature on isolated DA fractures, emphasizing intervention timing and splinting techniques and duration in both children and adults. This systematic review adhered to PRISMA guidelines and involved a thorough search across PubMed, Google Scholar, Semantic Scholar, and the Cochrane Library from January 1980 to December 2022. Inclusion and exclusion criteria guided study selection, with data extraction and analysis centered on demographics, etiology, injury site, diagnostics, treatment timelines, and outcomes in pediatric (2-12 years) and adult (>12 years) populations. This review analyzed 26 studies, categorized by age into pediatrics (2-12 years) and adults (>12 years). Falls were a common etiology, primarily affecting the anterior maxilla. Immediate management involved replantation, repositioning, and splinting within 24 hours (pediatric) or 48 hours (adult). Composite resin-bonded splints were common. Endodontic treatment was done within a timeframe of 3 days to 12 weeks for children and 2-12 weeks for adults.Tailored management based on patient age, tooth development stage, time elapsed, and resource availability is essential.
10.Nonkeratinizing carcinoma of the sinonasal tract: A diagnosis of confusing nomenclature.
Nur Hashima Abdul Rashid ; Suria Hayati Md Pauzi ; Geok Chin Tan ; Salina Husain ; Mohd Razif Mohammad Yunus ; Balwant Singh Gendeh
Philippine Journal of Otolaryngology Head and Neck Surgery 2011;26(2):21-24
OBJECTIVE: To describe a rare case of nonkeratinizing carcinoma of the sinonasal tract and review the literature on the nomenclature of its many synonyms.
METHODS:
Design: Case Report
Setting: Tertiary Referral Center
Patient: One
RESULTS: A 45-year-old female presented with a 6-month history of left nasal obstruction associated with epistaxis. Computed tomography revealed a mass expanding the left nasal cavity with the epicenter arising from the anterior ethmoidal air cells. Endoscopic resection of the tumor was carried out but as there was residual tumor, she then underwent endoscopic-assisted medial maxillectomy via a lateral rhinotomy. A subsequent computed tomography scan showed residual tumor adhering to the ipsilateral periorbita. The patient has so far declined intensity modulated radiotherapy that was advised though she is still under regular follow-up.
CONCLUSION: Nonkeratinizing carcinoma of the sinonasal tract is a rare entity and there are very few reports concerning this type of malignancy. This may be partly due to its many synonyms, such as cylindrical cell carcinoma, Schneiderian carcinoma and transitional cell carcinoma. Nomenclature of this tumor should be standardized to avoid confusion and misdocumentation.
Human ; Female ; Middle Aged ; neoplasms ; CARCINOMA ; TERMINOLOGY ; Nose ; Paranasal Sinuses ; Carcinoma, Transitional Cell ;