Medical Profession Journal of Lampung

Noonan Syndrome in A 6-Month-Old Female Infant: A Case Report

2026-07-24T05:15:30+00:00

Noonan syndrome (NS) is an autosomal dominant genetic disorder with significant phenotypic overlap with Turner syndrome (TS). Given these overlapping physical stigmata, accurate diagnosis requires a comprehensive multisystem clinical evaluation and molecular genetic confirmation, particularly when cytogenetic karyotyping yields normal results. A 6-month-old female infant was referred with an initial suspicion of TS, suspected hydrocephalus, and significant gross motor developmental delay. Physical examination revealed characteristic craniofacial and skeletal phenotypic stigmata mimicking TS, including webbed neck, bilateral microtia, low-set ears, hypertelorism, wide-spaced nipples, and bilateral single palmar creases. Echocardiography showed congenital heart disease consisting of mild pulmonary stenosis and a small atrial septal defect. Brain non-contrast CT scan demonstrated Benign Enlargement of the Subarachnoid Space in Infancy (BESS) with mild ventriculomegaly, ruling out obstructive hydrocephalus. Cytogenetic karyotype analysis revealed a normal 46,XX female karyotype, thereby definitively excluding classic TS (45,X). The combination of physical stigmata overlapping with TS, a normal 46,XX karyotype, and the presence of pulmonary stenosis leads to a strong clinical suspicion of Noonan syndrome (strongly suspected Noonan syndrome). However, because molecular genetic testing has not been performed, the diagnosis of NS in this patient remains a clinical diagnosis. This case highlights the importance of a holistic diagnostic approach to differentiate TS and NS phenotypes. Further molecular genetic testing, such as a Targeted Next-Generation Sequencing (NGS) panel for RASopathy genes (PTPN11, SOS1, KRAS, RAF1) or Whole Exome Sequencing (WES), is highly recommended to identify the specific causative gene mutation and achieve a definitive molecular diagnosis.

Holistic Management of Diabetic Foot Gangrene and Ulcer through Family Medicine Approach

2026-07-22T04:04:32+00:00

Diabetic foot ulcers and gangrene are chronic complications of diabetes mellitus and a leading cause of non-traumatic amputation that reduce quality of life, so their management requires a holistic, preventive, and family-based approach. We report a 55-year-old woman with blackening of the second and third right toes and a purulent open wound for one month, with uncontrolled type 2 diabetes mellitus, peripheral artery disease, anaemia, and acute kidney injury on chronic kidney disease. She lived in a functional nuclear family (APGAR score 10). The working diagnosis was gangrene of digits 2 and 3 and a Wagner grade IV diabetic foot ulcer of the right foot. A literature search on PubMed, the Cochrane Library, and Google Scholar addressed whether family-involved foot care education improves outcomes compared with standard care. A systematic review of ten studies (5,532 patients, including two Indonesian randomised controlled trials) showed that family involvement in foot care education and skills training consistently improved foot care behaviour, diabetes knowledge, wound healing, and HbA1c, with a trend toward fewer amputations. After toe amputation and holistic, family-involved management, the postoperative wound granulated well and glycaemic control improved. Holistic management integrating surgical-vascular treatment, metabolic control, and strengthening of the family role is the most rational strategy to prevent recurrent ulceration and re-amputation.

The Association of Knowledge, Attitudes, Family Role, and Economic Status with Smoking Behavior among Medical Students at the Faculty of Medicine, Universitas Malahayati, in 2025

2026-08-01T13:31:48+00:00

Smoking behavior among medical students is an important concern because they are future healthcare professionals who are expected to serve as role models for healthy lifestyles. This study aimed to determine the association between knowledge, attitudes, family roles, and economic status and smoking behavior among medical students at Universitas Malahayati. This quantitative study employed an observational analytical design with a cross-sectional approach. A total of 213 students who met the inclusion criteria were selected using purposive sampling. Data were collected using questionnaires and analyzed using the Chi-square test and multiple logistic regression. Smoking behavior was determined based on smoking status within the previous 30 days; respondents who reported smoking during this period were categorized as smokers, while those who did not smoke were categorized as non-smokers. Most respondents had good knowledge (72.8%), positive attitudes (53.5%), supportive family roles in smoking prevention (69.5%), and high economic status (52.1%). The majority of respondents were non-smokers (56.3%). Bivariate analysis showed significant associations between knowledge (p=0.026; OR=2.09), attitude (p=0.044; OR=1.82), family role (p=0.006; OR=2.38), and economic status (p=0.028; OR=1.92) and smoking behavior. In the multivariate analysis, family role had the strongest association with smoking behavior (p=0.004; OR=2.405; 95% CI: 1.315–4.400). These findings highlight the importance of strengthening family involvement as part of smoking prevention efforts among medical students.