Australasian Medical Journal
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Prenatal Diagnosis and Multidisciplinary Management of Achondroplasia: A Case Report
Get PDFBackground Achondroplasia, the most common form of skeletal dysplasia, is characterized by rhizomelic limb shortening, macrocephaly, and distinctive facial features. Prenatal diagnosis relies on ultrasound findings and genetic testing, and the condition poses challenges due to its variable prognosis and significant clinical manifestations. This case report describes the prenatal diagnosis of achondroplasia at 22 weeks of gestation and discusses the clinical features, differential diagnosis, and multidisciplinary management. Case Presentation A 36-year-old woman, gravida 2 para 1, was referred at 22 weeks of gestation for evaluation after a second-trimester ultrasound revealed rhizomelic limb shortening, macrocephaly, and a narrow thoracic cavity. Amniocentesis confirmed heterozygous FGFR3 mutation diagnostic of achondroplasia. After multidisciplinary counseling, the parents opted to continue the pregnancy. Postnatal care was planned with a focus on respiratory support, orthopedic monitoring, and genetic counseling. Discussion Achondroplasia results from a mutation in the FGFR3 gene and follows an autosomal dominant inheritance pattern, often occurring de novo. Key differential diagnoses include hypochondroplasia and thanatophoric dysplasia. Multidisciplinary management is essential to address complications such as respiratory distress, spinal stenosis, and orthopedic deformities. Conclusion Early prenatal diagnosis of achondroplasia allows for informed parental decision-making and comprehensive postnatal care planning. A collaborative approach among obstetricians, geneticists, and pediatric subspecialists is critical for optimizing outcomes
Incidental Finding of Ectopic Liver Lobule During Laparoscopic Cholecystectomy: A Case Report
Get PDFAn Accessory or ectopic liver lobule is a rare finding with different variations. In this case: we are presenting a case of a 20-year-old lady who was investigated for recurrent abdominal pain and was diagnosed with chronic calcular cholecystitis with an ultrasonography. There was whatsoever no radiological evidence of ectopic liver lobule. Intraoperatively, an ectopic liver lobule was seen adherent to the gallbladder wall without connection to the actual liver, and uneventful laparoscopic cholecystectomy with removal of the ectopic liver was successfully achieved. The patient was discharged home on the same day, The final histopathology of the specimen showed liver tissue without evidence of malignancy. In conclusion: an ectopic or accessory liver lobule could missed during preoperative investigations and it should be removed along with the gallbladder if found adherent to its wall during laparoscopic cholecystectomy to prevent related complications.
Prevalence And Etiology of Ecchymosis In Ksa: A Protocol For Systematic Review
Get PDFBackground: Several variables, one of which is geography, influence the prevalence of bleeding disorders. Even minor bleeding issues may cause iron shortage, illness, and even death in extreme circumstances. Clinicians have a difficult but essential challenge when attempting to quantify hemorrhagic symptoms as part of the therapy of bleeding diseases. Methods: A comprehensive search was conducted using electronic databases, including PubMed, Embase, and Cochrane Library, to identify relevant studies published from 2000 to 2023. The search was limited to English-language studies that examined the prevalence and etiology of ecchymosis in KSA. Results: This systematic review investigated 26 studies initially identified from major databases, ultimately selecting 10 for in-depth analysis. Two pivotal studies were featured, providing insights into bleeding disorders from diverse perspectives. The first study examined bleeding disorders in adult students across four locations in Saudi Arabia, revealing significant regional variations (14.03% to 32.3%) and gender differences (54.9% females, 45.1% males). It emphasized the necessity of quantifying hemorrhagic symptoms and advocated for a nationwide monitoring system. The second study focused on von Willebrand Disease patients in a Saudi tertiary care hospital, uncovering diverse bleeding sources and highlighting blood type O's significant associations. The results underscored the complexity of bleeding disorders and advocated for tailored diagnostic and treatment strategies, contributing valuable information for future research and clinical practice. Conclusion: The results of this research show that moderate bleeding problems are more common in certain ethnic groups and that men and women experience them differently. To better treat these patients, a nationwide monitoring system is necessary. Our cohort's most prevalent clinical manifestations were bleeding in the muscles and joints. Our group had the highest incidence of type 1 vWD, but type 3 was much more common, which may be attributable to racial disparities or referral bias. In terms of FVIII and vWF:Ag, we discovered a statistically significant difference between O and non-O blood types. In terms of vWD activity, as measured by vWF:RCo, we found an even more dramatic difference, with blood type O serving as the underlying component
Editor’s Note
Get PDFWe are pleased to offer you the 2024 fourth edition. For this Issue, in addition to a few original papers and case studies, we decided to honour the contributions made all year lon
Impact Of Bariatric Surgery on Gastroesophageal Reflux Disease: A Cross-Sectional Study
Get PDFObjective: To assess the occurrence of GERD after bariatric surgery and surgery impact on GERD. Methods: This research employs a cross-sectional study design to investigate the impact of bariatric surgery on Gastroesophageal Reflux Disease (GERD) among individuals who have undergone various types of bariatric surgeries. Results: The study included 302 participants. The most frequent weight among them was more than 96 kg (n= 130, 43%) followed by 76-85 kg (n= 51, 16.9%). The most frequent height among study participants was 1.61-1.70 m (n= 100, 33.1%) followed by 1.51-1.60 m (n= 99, 32.8%). The most frequent body mass index (BMI) value among study participants was more than 35 kg/m2 (n= 126, 41.7%) followed by 25-29.9 kg/m2 (n= 67, 22.2%). The most frequent age among study participants was 26-36 years (n= 104, 34.4%) followed by 15-25 years (n= 83, 27.5%). The most frequent gender among study participants was Female (n= 162, 53.6%) followed by Male (n= 140, 46.4%). Participants were asked about the type of obesity surgery. The most frequent was Gastric sleeve (n=222, 73.5%), followed by Gastric bypass (n=33, 10.9%). Conclusion: Study results showed that most of the study participants are extremely obese according to their BMI. The most common obesity surgery type was a Gastric sleeve followed by a Gastric bypass. The most of participants were a non-smoker. Most of them had weight loss. In addition, most of the study participants had good social connection
Role of Application of SWCR Guidelines In Management of Sacral Pressure Injury (PI)
No full textA pressure injury is localized tissue necrosis following pressure injury to the skin and/or underlying tissue for prolonged period. The process of ulceration is aggravated by simultaneous shear or direct injury to skin continuity. The terms “decubitus ulcer,” “bedsore,” and “pressure sore” are often used interchangeably, but they do not describe the condition as accurately as pressure injury. The word ‘decubitus’ – derived from the Latin ‘decumbo’ or ‘decumbere’, meaning ‘to lie down’ or ‘recline’ – as the ulcer occur commonly over areas of bony prominences in recumbent position, e.g., the sacrum, trochanter, heel, and occiput. The term ‘pressure ulcer’ describes these ulcers better with pressure as an important etiologic factor.Aim of this case report is to assess the role of applying SWCR guidelines in management of pressure injuries.
Thyroid hormones and hepatorenal function in Diabetes Mellitus : A Conclusion from Indian Study.
Get PDFBackground: Presence of hypothyroidism in Diabetes Mellitus (DM) is a foundation for development of complications. Thyroid hormones have been hypothesised to affect and be affected by hepatorenal function. These hypotheses warrant further study into the topic. Materials & methods: 81 diabetics and 81 age & sex-matched healthy volunteers participated in the study. Their blood samples were analysed for fasting blood glucose (FBG), glycosylated hemoglobin (HbA1C), total triiodothyronine (T3), total thyroxine (T4), free T3 (FT3), free T4 (FT4), thyroid-stimulating hormone (TSH) and liver & renal function tests. Data was analysed using appropriate statistical tests. Results: 42 males and 39 females each were recruited as cases and controls. FBG, HbA1c, FT4, TSH, serum alanine transaminase (ALT), alkaline phosphatase (ALP) and serum creatinine (CR) were higher in diabetics. T3 and FT3 were lower in diabetics. T3, FT3, and albumin (ALB) were lower in diabetics with CR ≥ 1.30 mg/dL. FBG, direct bilirubin (DBIL), ALP and CR were higher and T3 and FT3 were lower in hypoproteinemic diabetics. Total proteins (TPRO) and ALB positively correlated with T3 and FT3. TBIL positively correlated with FBG. ALP positively correlated with HbA1c. Conclusion: Hypoproteinemia predicts poor glycemic control, renal dysfunction and hypothyroidism. High-normal circulating levels of T3 and FT3 being correlated with lower levels of CR may imply that a thyroid-sufficient state is largely protective against renal dysfunction in DM. In summary, routine LFT and RFT investigations can be indicative of subclinical hypothyroidism and thus an underlying cause of resistance to anti-hyperglycemic therapy; treating the same may improve therapeutic outcomes.
Reference intervals for estimated CBC parameters in cord blood: An Indian Scenario
Get PDFAccurate reference intervals established in healthy subjects are essential for appropriate interpretation of laboratory test results and to assist clinicians in diagnosis, monitoring, and treatment of disease. These values are affected by key covariates including age, sex, race, geographical location and dietary pattern. Reference intervals are defined as “limiting values within which a specified percentage (usually 95%) of apparently healthy individuals’ results would fall” i.e. usually the 2.5th and 97.5th percentiles of the test result distribution in the reference (healthy) population