ABSTRACT
Background Genital tract malignancies have a significant contribution to morbidity and mortality, particularly in resource-poor countries, including Sri Lanka. The distribution of such tumours varies from region to region. Methodology This was a retrospective, observational study at the Teaching Hospital, Batticaloa for five and a half years, from January 2012 to June 2017, and aimed at analyzing the pattern of gynaecological malignancies. All the histologically confirmed gynaecological cancers arising from the uterine cervix, endometrium, ovary, vagina, and vulva were included in the analysis. Results There were 508 cervical specimens to study histopathology of the cervix, 1,884 gynaecological specimens to study the endometrial histopathology, 537 ovarian specimens, and 92 vaginal and vulval specimen were sent for their histopathological study during the same period. About 143 genital tract malignancies had been diagnosed. There were 52 cervical malignancies (36.36%) and 52 ovarian malignancies (36.36%). The second commonest (20.28%) was endometrial malignancy. Vaginal malignancy was at fourth place (4.9%). Vulval malignancy was 2.1%. The peak age distribution of malignancies (55.24%) was mainly in the 40-59 years age range. The incidence of cervical and ovarian malignancies peaked at 40-59 years, with 32/52 (61.54 %) and 26/52 (50%) of the diagnosed cases, respectively. Conclusion Cervical cancer and ovarian cancer accounted for almost 72.73% of the entire gynaecological malignancies in this study, and both of them have the same peak incidence in the 40-59 age group. This study also showed that 43.36% of total female genital tract tumours are Human Papilloma Virus-associated cancers. They are not only preventable by certain strategies but also identifiable and manageable at the precancerous stage.
ABSTRACT
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent complications and early mortality. Recently, it was reported that mutations in STXBP2 gene are linked to FHL type 5 (FHL-5). CASE PRESENTATION: We report a Sri Lankan neonate who presented with low Apgar scores at birth, abdominal distension, and hepatosplenomegaly, followed by lethargy, poor sucking and rapid decompensation with wide spread activation of inflammation within 48 h of birth. Her elder sibling also had a similar presentation during early neonatal period and deceased at two weeks of age with no diagnosis. Unfortunately, the index case deceased at 14 days of age following multi-organ dysfunction and severe metabolic acidosis. Targeted gene panel followed by reflex exome sequencing revealed a novel likely pathogenic homozygous variant in the STXBP2 gene (NM_001272034.1:c.1141-2A > G) which confirmed the diagnosis of autosomal recessive FHL-5. CONCLUSION: Early diagnosis of FHL type 5 using genetic analysis and timely treatment are difficult in the absence of family history due to a wide spectrum of clinical manifestations. However both early diagnosis and treatment doesn't alter the long term prognosis. So genetic counselling would be the better option.
Subject(s)
Exome , Hydrops Fetalis , Aged , Female , Humans , Infant, Newborn , Lymphohistiocytosis, Hemophagocytic , MaleABSTRACT
The sucking pad is a hyperkeratotic thickening of the lips of a neonate. It might present either at birth or develop later in the neonatal period. It indicates that the child has effective sucking. We present two babies who developed the peeling of the lips during the neonatal period. It was mistreated as various conditions. Ultimately, it was diagnosed as a sucking pad, and the parents were reassured that it was a benign lesion.
ABSTRACT
Background Adolescent pregnancy is a high-risk condition that can potentially lead to adverse perinatal and obstetric outcomes. It is a growing concern in developing countries including Sri Lanka. The main objective of this study was to evaluate obstetric and perinatal outcomes amongst adolescent pregnancies and compare them with outcomes of pregnancies of average maternal age (AMA) women. Method This was a prospective, cross-sectional study conducted at a tertiary care hospital in the Eastern province of Sri Lanka. A total of 795 primigravidae who had singleton pregnancies and delivered their live babies over a period of three months from February to April 2019 were selected for the study. The data were retrieved from Bed Head Tickets (BHTs) of those patients upon discharge from the postnatal ward. Results The majority of primigravida was AMA women and accounted for 83.4% (n=663) of the study population while primiparous adolescents comprised 16.6% (n=132). Among the 132 adolescent pregnancies, 81.1% (n=107) were associated with complications and the remaining 18.9% (n=25) were uncomplicated. The most common risk associated with adolescent pregnancy was the low birth weight (LBW; n=24, 18.2%), followed by preterm labour (n=10, 7.6%). An adolescent mother had a 1.3 times higher possibility of delivering an LBW baby than an AMA mother and the risk was statistically significant (p=0.04). The likelihood of delivering an intrauterine growth restriction (IUGR) baby was higher in adolescent mothers (6%) than in AMA mothers (5%). Adolescent mothers had a 1.2 times higher chance of delivering newborns with IUGR compared to AMA mothers; however, the difference of IUGR was not statistically significant (p>0.05). The incidence of foetal distress was less among adolescent mothers compared to AMA mothers. The majority of the babies (n=126, 95.5%) of adolescent pregnancies were healthy. Only 4.5% (n=6) babies needed neonatal intensive care unit (NICU) admissions; of those, four babies had very LBW and prematurity and the other two babies depressed at birth and developed respiratory distress. Conclusion Adolescent pregnancy carries a significant risk of obstetric complications including LBW and prematurity that should draw public and healthcare providers' attention. The effectiveness of a comprehensive antenatal and community-based program to prevent adolescent pregnancy and related adverse outcomes should further be evaluated.
ABSTRACT
Trichotemnomania (TT) refers to cutting or shaving of one's own hair as a compulsive act. This condition is reported rarely and may be indicative of an underlying obsessive-compulsive disorder. TT may be misdiagnosed with trichotillomania or other disorders such as alopecia areata, tinea capitis, and postinflammatory scars. The diagnosis of trichotemnomania is confirmed by dermoscopic assessment, histopathological changes of hair, and correlation of these findings with clinical history. A fourteen-year-old adolescent girl presented with focal hair loss over forehead for duration of two-weeks and periodic abnormal breathing and poor sleep for 2-month duration. Besides, she had also lost some of pubic hair and hair on the forearm over preceding 24 hours. This patient was assessed by a team including a paediatrician, gynecologist, dermatologist, and psychiatrist to gather focused medical history and to perform physical examination, laboratory investigations, and dermoscopic assessment. It was revealed that she used to shave or cut regularly following stressful situations across various aspects of her life and hyperventilate as a means of relieving her stress. Eventually, she was diagnosed to have trichotemnomania and was started oral sertraline 50 mg/day for one month. Clinical features and her behaviour improved with regular cognitive behavioural therapy, and hairs were demonstrated to grow up normally with change in behaviour. Currently, she does well at school and is off medications and being followed up at the child guidance clinic. Trichotemnomania is a very rare disorder which is characterised by cutting or shaving of one's own hairs as a compulsive habit. The condition needs careful and detailed assessment by a team of specialists to identify coexisting psychiatric disorders and offer treatment.
