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Developmental haemostasis for factor V and factor VIII levels in neonates: a case report of spontaneous cephalhaematoma

Abdullah WZ, Ismail R, Nasir A, Mohamad N, Hassan R

Fetal Pediatr Pathol, 2013 Apr;32(2):77-81.
PMID: 22536947 DOI: 10.3109/15513815.2012.671447

Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to "immaturity" of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma.
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome

Karmila AB, Yap YC, Appadurai M, Oh L, Fazarina M, Abd Ghani F, et al.

Fetal Pediatr Pathol, 2021 Apr;40(2):113-120.
PMID: 31707902 DOI: 10.1080/15513815.2019.1686788

Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS).Case report: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress.
Nonclonal Chromosomal Aberrations in Childhood Leukemia Survivors

Chin TF, Ibrahim K, Thirunavakarasu T, Azanan MS, Oh L, Lum SH, et al.

Fetal Pediatr Pathol, 2018 Aug;37(4):243-253.
PMID: 30273079 DOI: 10.1080/15513815.2018.1492054

BACKGROUND: Survivors of childhood cancer are at risk of developing a second malignancy. One possible mechanism for neoplastic transformation of cells is through induction of persistent genomic instability. This study aims to seek evidence of chromosomal instability in long-term childhood leukemia survivors (CLS) in one of the largest pediatric academic oncology centers in South East Asia.
METHODS: 50 asymptomatic (subjects have remained leukemia-free since treatment cessation) CLS and 50 healthy controls were recruited in this cross-sectional study. Of 50 CLS, 44 had acute lymphoblastic leukemia and 6 had acute myeloid leukemia. G-banded karyotyping was performed on unstimulated peripheral blood leukocytes of all subjects.
RESULTS: CLS had significantly higher occurrence of karyotypic abnormalities compared to controls. Five CLS harbored six nonclonal abnormalities (mostly aneuploidy) while none were found in controls.
CONCLUSION: Subpopulations with nonclonal chromosomal aberrations were present in peripheral blood leukocytes of our cohort of childhood leukemia long-term survivors.
Lung, Liver and Skin Changes in an Infant with Positive Methamphetamine

Subramaniam K, Hazmi HB, Guan YS, Zainun KAB

Fetal Pediatr Pathol, 2023 Apr;42(2):263-269.
PMID: 35620894 DOI: 10.1080/15513815.2022.2080309

BACKGROUND: The increased use of illicit drugs continues to lead to the discovery of various unexpected pathologies.
CASE PRESENTATION: This 7-month-old infant died suddenly at home. Pulmonary artery fibrinoid necrosis, diffuse fatty liver changes, and skin rash were the main histologic postmortem findings. Postmortem urine contained traces of methamphetamine. Methamphetamine was smoked by the parents.
CONCLUSIONS: Fibrinoid necrosis has been described with inhaling methamphetamine and can result in fibrinoid angiitis such as in this case. Although this did not result in pulmonary hemorrhage or could be directly related to death, it does suggest that pulmonary artery fibrinoid necrosis may develop with passive inhalation of methamphetamines.