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1.
Birth Defects Res ; 116(5): e2348, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38801241

RESUMO

BACKGROUND: Absent or hypoplastic nasal bone (AHNB) on first or second-trimester ultrasonography (USG) is an important soft marker of Down syndrome. However, due to its varied incidence in euploid and aneuploid fetuses, there is always a dilemma of whether to go for invasive fetal testing for isolated AHNB. This study aims to assess outcomes specifically within the context of Indian ethnicity women. MATERIALS AND METHODS: This was a prospective observational study. All patients who reported with AHNB in the first- or second-trimester USG were included. Genetic counseling was done, and noninvasive and invasive testing was offered. Chromosomal anomalies were meticulously recorded, and pregnancy was monitored. RESULTS: The incidence of AHNB in our study was 1.16% (47/4051). Out of 47 women with AHNB, the isolated condition was seen in 32 (0.78%) cases, while AHNB with structural anomalies was seen in nine cases (0.22%). Thirty-nine women opted for invasive testing. Six out of 47 had aneuploidy (12.7%), while two euploid cases (4.25%) developed nonimmune hydrops. The prevalence of Down syndrome in fetuses with AHNB was 8.5% (4/47) and 0.42% (17/4004) in fetuses with nasal bone present. This difference was statistically significant (p = .001). CONCLUSION: The results indicate that isolated AHNB cases should be followed by a comprehensive anomaly scan rather than immediately recommending invasive testing. However, invasive testing is required when AHNB is associated with other soft markers or abnormalities. As chromosomal microarray is more sensitive than standard karyotype in detecting chromosomal aberrations, it should be chosen over karyotype.


Assuntos
Síndrome de Down , Osso Nasal , Ultrassonografia Pré-Natal , Humanos , Feminino , Osso Nasal/anormalidades , Osso Nasal/diagnóstico por imagem , Gravidez , Estudos Prospectivos , Síndrome de Down/genética , Adulto , Ultrassonografia Pré-Natal/métodos , Aneuploidia , Índia , Aconselhamento Genético , Diagnóstico Pré-Natal/métodos , Pais , Segundo Trimestre da Gravidez , Aberrações Cromossômicas
2.
BMJ Case Rep ; 16(2)2023 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-36750295

RESUMO

Haemoglobin E (HbE) affects at least 1 million people around the world. The carrier frequency of HbE/beta-thalassaemia (HbE/ß-thalassaemia) is highest in Southeast Asia. In India, the highest frequency is observed in the northeast region. Distinguishing between homozygous HbE disease and HbE/ß-thalassaemia is a challenge to the haematopathologist as well as to the treating obstetrician because both are clinically and haematologically similar, posing a difficulty in managing anaemia and assessing the fetal risk for the same disease. This article reports a case of compound heterozygote HbE/ß-thalassaemia in pregnancy and its successful outcome.


Assuntos
Hemoglobina E , Talassemia , Talassemia beta , Feminino , Humanos , Gravidez , Heterozigoto , Hemoglobina E/análise , Hemoglobina E/genética , Talassemia beta/terapia , Índia
3.
J Minim Access Surg ; 19(1): 152-154, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35915519

RESUMO

Vaginal vault dehiscence leading to bowel evisceration is a rare but potentially lethal surgical emergency. Various aetiologies have been reported in the literature, but the condition is most commonly seen after hysterectomy in post-menopausal women. Prompt reduction of the bowel is necessary to prevent ischaemic complications. Although most cases in the past have been managed by exploratory laparotomy, the condition may be managed laparoscopically if the prolapsed bowel is viable, giving the benefit of minimally invasive surgery to the patient. A hybrid approach of laparoscopic bowel reduction and per vaginal repair of the vault is technically simple and can be performed even by non-expert surgeons in an emergency setting.

5.
J Obstet Gynaecol India ; 72(3): 201-207, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35734359

RESUMO

Abstract: Renal disease has always been a challenge for the treating obstetrician. With new advances in the management of renal disease, an increasing number of patients can continue the pregnancy and with individualization have a better outcome. Material and Methods: To analyze the pregnancy outcomes in renal disease, a retrospective cohort observational study over 5 years at a tertiary care institute in northern India was done. All the pregnant women with pre-existing renal disease of any etiology presenting at any period of gestation who consented were included and those not consenting were excluded from the study. Results: Of 62 patients enrolled, 82.26% (n = 51) were followed,17.74%(n = 11) were lost to follow up. 58.82% (n = 30) had to undergo termination of pregnancy and 41.18%(n = 21) had delivery after 28 weeks of gestation. The antenatal complications seen were hypertension in 15.69%, diabetes mellitus in 9.80%, anemia in 5.88%. Fetal complications included preterm delivery (42.85%) and small for gestational age babies(61.90%). Cesarean delivery was 85.71% and normal delivery in 14.29% of patients. Conclusion: Both maternal and fetal outcomes are influenced by the cause and degree of renal dysfunction. A better outcome is seen when the renal disease is under control, good antenatal follow-up, multidisciplinary approach, and timely delivery.

6.
J Family Med Prim Care ; 10(7): 2709-2712, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34568160

RESUMO

Coronavirus disease 2019 (COVID-19) pandemic has emerged as the major public health threat in recent times. Although associated with high morbidity and mortality affecting all age groups across populations, "pregnant women" represent a subgroup that needs extra surveillance. We present the case of a primigravida in her advanced pregnancy presenting with acute febrile illness with flu-like symptoms. The clinico-radiological picture was suspicious for COVID-19; however, she tested negative for COVID-19 on two occasions. On further investigations, she tested positive for Scrub typhus (IgM-ELISA) and responded to treatment with doxycycline. However, due to the ongoing COVID-19 pandemic, much time was lost before suspecting and reaching the final diagnosis. Therefore, the patient had to suffer due to delayed medical intervention and intrauterine fetal death. Despite the unprecedented rise of COVID-19 in pregnant women in recent times, we should not forget about other tropical illnesses, which can mimic COVID-19 in clinical presentation and affect feto-maternal outcomes adversely.

8.
J Card Surg ; 35(12): 3545-3550, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33040399

RESUMO

BACKGROUND: Cardiovascular patients are at increased risk of acquiring coronavirus disease 2019 (COVID-19) infection while their visit to healthcare facilities. There is a need for alternative tools for optimal monitoring and management of cardiovascular patients in the present pandemic situation. Digital health care may prove to be a new revolutionary tool to protect cardiovascular patients from coronavirus disease by avoiding routine visits to health care facilities that are already overwhelmed with COVID-19 patients. METHODS: To evaluate the role of digital health care in the present era of the COVID-19 pandemic, we have reviewed the published literature on digital health services providing cardiovascular care. RESULTS AND CONCLUSION: Digital health including telemedicine services, robotic telemedicine carts, use of artificial intelligence and machine learning, use of digital gadgets like smartwatches and web-based applications may be a safe alternative for the management of cardiovascular patients in the present pandemic situation.


Assuntos
Inteligência Artificial , COVID-19/epidemiologia , Atenção à Saúde/métodos , Pandemias , Telemedicina/organização & administração , Humanos , SARS-CoV-2
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