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1.
Medicina (Kaunas) ; 60(4)2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38674281

RESUMO

The increasing prevalence of bariatric surgery among women of childbearing age raises critical questions about the correct management of pregnancy following these procedures. This literature review delves into the multifaceted considerations surrounding pregnancy after bariatric surgery, with a particular focus on the importance of preconception counselling, appropriate nutrition assessment, and the necessity of correct folic acid supplementation. Key areas of investigation include nutrient absorption challenges, weight gain during pregnancy, and potential micronutrient deficiencies. Examining the relationship between bariatric surgery and birth defects, particularly heart and musculoskeletal issues, uncovers a twofold increase in risk for women who underwent surgery before pregnancy, with the risk emphasized before folic acid fortification. In contrast, a nationwide study suggests that infants born to mothers with bariatric surgery exhibit a reduced risk of major birth defects, potentially associated with improved glucose metabolism. In addition, this review outlines strategies for managing gestational diabetes and other pregnancy-related complications in individuals with a history of bariatric surgery. By synthesizing existing literature, this paper aims to provide healthcare providers with a comprehensive framework for the correct management of pregnancy in this unique patient population, promoting the health and well-being of both mother and child.


Assuntos
Cirurgia Bariátrica , Obesidade , Complicações na Gravidez , Adulto , Feminino , Humanos , Gravidez , Cirurgia Bariátrica/efeitos adversos , Cirurgia Bariátrica/métodos , Diabetes Gestacional , Ácido Fólico/administração & dosagem , Ácido Fólico/uso terapêutico , Complicações na Gravidez/prevenção & controle , Complicações na Gravidez/etiologia , Redução de Peso , Obesidade/cirurgia , Obesidade/terapia
2.
Medicina (Kaunas) ; 58(5)2022 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-35630092

RESUMO

Management strategies for pregnancies with abnormal adherence/invasion of the placenta (placenta accreta spectrum, PAS) vary between centers. Expectant management (EM), defined as leaving the placenta in situ after the delivery of the baby, until its complete decomposition and elimination, has become a potential option for PAS disorders in selected cases, in which the risk of Caesarean hysterectomy is very high. However, expectant management has its own risks and complications. The aim of this study was to describe the rates of subsequent hysterectomy (HT) in patients that underwent EM for the treatment of PAS disorders. We reviewed the literature on the subject and found 12 studies reporting cases of HT after initial intended EM. The studies included 1918 pregnant women diagnosed with PAS, of whom 518 (27.1%) underwent EM. Out of these, 121 (33.2%) required subsequent HT in the 12 months following delivery. The rates of HT after initial EM were very different between the studies, ranging from 0 to 85.7%, reflecting the different characteristics of the patients and different institutional management protocols. Prospective multicenter studies, in which the inclusion criteria and management strategies would be uniform, are needed to better understand the role EM might play in the treatment of PAS disorders.


Assuntos
Placenta Acreta , Cesárea/efeitos adversos , Cesárea/métodos , Feminino , Humanos , Histerectomia/métodos , Placenta Acreta/cirurgia , Gravidez , Estudos Prospectivos , Conduta Expectante
3.
Medicina (Kaunas) ; 58(1)2022 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-35056419

RESUMO

Background and Objectives: Emergency peripartum hysterectomy (EPH) is a life-saving surgical procedure performed when medical and surgical conservative measures fail to control postpartum hemorrhage. The objective of this study was to estimate the incidence of EPH and to determine the factors leading to this procedure and the maternal outcomes. Materials and Methods: A retrospective cohort study with all cases of EPH performed at Filantropia Clinical Hospital in Bucharest between January 2012 and May 2021. Results: There were 36 EPH, from a total of 36,099 births recorded. The overall incidence of EPH was 0.99 per 1000 deliveries, most cases being related to placenta accreta spectrum disorder and uterine atony. Conclusions: Peripartum hysterectomy is associated with an important maternal morbidity rate and severe complications. Efforts should be made to reduce the number of unnecessary cesarean deliveries.


Assuntos
Obstetrícia , Período Periparto , Feminino , Humanos , Histerectomia , Incidência , Gravidez , Estudos Retrospectivos , Romênia/epidemiologia
4.
Medicina (Kaunas) ; 58(8)2022 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-35893099

RESUMO

Pulmonary Alveolar Proteinosis (PAP) is a rare, usually autoimmune, disease, where surfactant accumulates within alveoli due to decreased clearance, causing dyspnea and hypoxemia. The disease is even more rare in pregnancy; nevertheless, it has been reported in pregnant women and can even appear for the first time during pregnancy as an asthma-like illness. Therefore, awareness is important. Similarly to many autoimmune diseases, it can worsen during pregnancy and postpartum, causing maternal and fetal/neonatal complications. This paper offers a narrative literature review of PAP and pregnancy, while illustrating a case of a pregnant patient with known PAP who developed preeclampsia in the third trimester but had an overall fortunate maternal and neonatal outcome.


Assuntos
Doenças Autoimunes , Proteinose Alveolar Pulmonar , Surfactantes Pulmonares , Doenças Autoimunes/complicações , Dispneia/etiologia , Feminino , Humanos , Recém-Nascido , Pulmão , Gravidez , Proteinose Alveolar Pulmonar/complicações , Proteinose Alveolar Pulmonar/diagnóstico , Proteinose Alveolar Pulmonar/terapia
5.
J Ultrasound Med ; 40(9): 1975-1986, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33274770

RESUMO

With an increased cesarean delivery rate, the incidence of abnormal placentation is steadily rising, and it is estimated to be around 1.7 per 1000 pregnancies for cesarean scar pregnancy and 1 per 500 pregnancies for placenta accreta spectrum disorder. Current evidence considers cesarean scar pregnancy and placenta accreta spectrum as being the same condition, with different aspects, of the same spectrum, having higher risks with advancing gestation. We present 7 cases, diagnosed and managed in our hospital, at different gestational ages. Early diagnosis is essential for appropriate counseling and subsequent management, and an ultrasound examination is the reference standard for diagnosis. Screening for an abnormally implanted placenta in the first trimester of pregnancy might improve the perinatal outcome and reduce maternal morbidity and mortality.


Assuntos
Placenta Acreta , Gravidez Ectópica , Cesárea/efeitos adversos , Cicatriz/diagnóstico por imagem , Feminino , Humanos , Placenta Acreta/diagnóstico por imagem , Placenta Acreta/terapia , Gravidez , Gravidez Ectópica/diagnóstico por imagem , Gravidez Ectópica/terapia , Ultrassonografia Pré-Natal
6.
Medicina (Kaunas) ; 57(11)2021 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-34833486

RESUMO

Wharton's jelly is a specialized connective tissue surrounding and protecting umbilical cord vessels. In its absence, the vessels are exposed to the risk of compression or rupture. Because the condition is very rare and there are no available antepartum investigation methods for diagnosis, these cases are usually discovered after delivery, frequently after in utero fetal demise. We report the fortunate case of a 29-year-old nulliparous woman, with an uncomplicated pregnancy, admitted at 39 weeks in labor where a persistently abnormal cardiotocographic trace led to delivery by cesarean section of a healthy 3500 g newborn. After delivery, a Wharton's jelly anomaly was identified at the abdominal umbilical insertion (umbilical cord vessels, approximately 1 cm in length, were completely uncovered by Wharton's jelly), which required surgical thread elective ligation. In the presence of a persistently abnormal CTG trace, in a pregnancy with no clinical settings suggestive of either chronic or acute fetal hypoxemia, the absence of Wharton's jelly should be taken into consideration in the differential diagnosis.


Assuntos
Geleia de Wharton , Abdome , Adulto , Cesárea/efeitos adversos , Feminino , Humanos , Recém-Nascido , Gravidez , Cordão Umbilical/diagnóstico por imagem
7.
Medicina (Kaunas) ; 58(1)2021 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-35056344

RESUMO

Phyllodes Tumor (PT) is a rare fibroepithelial breast tumor that can behave differently depending on its biologic features. Traditionally, PTs are classified by their histologic features into benign, borderline, and malignant. In most cases that were reported, all PTs may recur, but only the borderline and malignant PT can metastasize. PT usually occurs as a breast lump or accidental finding on ultrasound (US) examination. The clinical features include a well-defined breast mass, regular or lobulated. The diagnosis is based on the integration of morphology features, but remains challenging, particularly in the distinction from fibroadenomas. We report a case of a 36-year-old patient who presented for a voluminous breast mass, rapidly growing in the past 3-4 months. At presentation, the patient was 19 weeks pregnant. The breast tumor had the clinical and US aspect of PT. A core needle biopsy was obtained, confirming a benign PT, and local excision was performed with no postoperative complications. The final pathology report showed a borderline PT with close resection margins of 1 mm. Immunohistochemistry (IHC) established the diagnosis of malignant PT with heterologous sarcomatous differentiation. The case was discussed in the multidisciplinary tumor board (MDT) and mastectomy was recommended. The patient fully consented but refused surgery at 25 weeks' gestation, fearing premature delivery. The right breast was closely monitored by US, and at 9 weeks after the first surgery, signs of local recurrence were detected. At 35 weeks' gestation, right mastectomy was performed, with no perioperative complications. The pregnancy was closely followed up and no complication were found. The final pathology report describes multiples PT recurrences with heterologous sarcomatous differentiation. The pregnancy outcome was uneventful, and the patient delivered a healthy child vaginally at term with no peripartum complication. Postpartum, a computer tomography (CT) examination of the head, thorax, abdomen and pelvis was performed, with no evidence of metastases. Adjuvant chemotherapy and radiotherapy completed the treatment. The follow-up and CT scan showed no metastases or further recurrence 4 years after diagnosis. In conclusion, diagnosis of PT can be difficult, especially because of the easy confusion with fibroadenoma of the breast. There are rare cases when a pathology exam needs further assessment and IHC is recommended for accurate diagnosis. Although malignant PT is rare and accounts for <1% of all breast cancers, the diagnosis and treatment that are recommended are based on the reported cases. Moreover, when complete surgical excision is achieved, the rates of recurrence and distant metastases are low, and adjuvant therapy might not be necessary.


Assuntos
Neoplasias da Mama , Tumor Filoide , Adulto , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Feminino , Humanos , Margens de Excisão , Mastectomia , Tumor Filoide/diagnóstico , Tumor Filoide/cirurgia , Gravidez , Prognóstico
8.
Medicina (Kaunas) ; 57(8)2021 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-34441035

RESUMO

Granulosa cell tumor of the ovary (GCT) is a rare ovarian tumor with nonspecific symptoms. Studies reported that GCT are usually secreting estrogens and inhibins, especially inhibin B. It is considered that, in premenopausal women, irregular menses or secondary amenorrhea may be an early symptom of GCT and, in postmenopausal women, the most common manifestation is vaginal bleeding. Additionally, endometrial abnormalities can be associated due to estrogenic secretion. At reproductive age, high levels of inhibin, lead to low levels of FSH and secondary amenorrhea causing infertility. At times, increased levels of LH in women with GCT are observed and the pathogenesis is still unclear. Therefore, inhibin B level can differentiate GCT from other causes of secondary amenorrhea. We report the case of a 26-year-old nulliparous, women who presented in our clinic with secondary infertility lasting longer than 2 years, secondary amenorrhea, polycystic ovarian syndrome, and suspicion of right ovarian endometrioma on CT scan. The ultrasound examination revealed that the right ovary was transformed in an anechoic mass with increased peripheral vascularity having a volume of 10 cm3. This patient had high serum levels of inhibin B and LH but normal levels of FSH and estradiol. The preliminary diagnosis of granulosa cell tumor of the ovary was made. After counseling, the informed consent for treatment was obtained and the patient agreed to undergo surgery. An uneventful laparoscopy was performed with right oophorectomy and multiple peritoneal sampling. The histological diagnosis confirmed adult GCT limited to right ovary, with negative peritoneal biopsies (FIGO IA). After surgery the patient recovered fully and had normal menstrual cycles with normal serum levels of hormones. Two months later she conceived spontaneously and had an uneventful pregnancy. In conclusion, for cases with secondary amenorrhea, the evaluation of inhibin B level is essential. Elevated inhibin B level may be a sign for the presence of an unsuspected tumor. With early diagnosis and treatment, the prognosis is generally good and the fertility may be preserved, especially in young patients with GCT.


Assuntos
Amenorreia , Infertilidade , Adulto , Amenorreia/etiologia , Feminino , Tumor de Células da Granulosa , Humanos , Inibinas , Hormônio Luteinizante , Ovário , Gravidez
9.
Medicina (Kaunas) ; 57(12)2021 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-34946230

RESUMO

Fetomaternal hemorrhage is defined as transfer of fetal blood into placental circulation and therefore into maternal circulation during pregnancy, and represents an important contributor to intrauterine fetal demise and neonatal death. The condition is rarely diagnosed prenatally because clinical findings are often nonspecific, and it is unpredictable. In this paper we present an illustrative case of massive spontaneous fetomaternal hemorrhage where the diagnosis was highly suspected antenatally based on maternal reported reduced fetal movements, abnormal suggestive cardiotocographic trace, and increased peak systolic velocity in the fetal middle cerebral artery. We discuss obstetrical and neonatal management and review the current knowledge in the literature. Maintaining a high index of suspicion for this condition allows the obstetrician to plan for adequate diagnostic tests, arrange intrauterine treatment or delivery, and prepare the neonatal team.


Assuntos
Anemia Neonatal , Anemia , Transfusão Feto-Materna , Anemia/etiologia , Feminino , Transfusão Feto-Materna/diagnóstico , Humanos , Recém-Nascido , Placenta , Gravidez , Diagnóstico Pré-Natal
10.
Chirurgia (Bucur) ; 116(5): 533-541, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34749849

RESUMO

Sentinel Lymph node biopsy (SLNB) represents the standard approach in a newly diagnosed breast cancer for axillary staging in cases of clinical node negative. This represents a major prognostic factor and the biopsy of sentinel lymph node for early breast cancer is used as guidance in surgical and oncological treatment. Although for many decades, axillary lymph node dissection was the standard approach for breast cancer treatment and staging, this pathway was abandoned due to significant risk of lymphedema, infection, nerve and vessels injury or dysfunction of the shoulder. Therefore, significant improvement in the quality of life was seen for patients diagnosed with early breast cancer after SLNB was introduced as standard. The principle of SLNB is based on the hypothesis that tumor drains in the lymphatic system in an orderly manner and if the first lymphatic station is clear of disease, it is highly unlike that the tumor has spread further above. We present in our paper the indications with principles and difficulties in identification of sentinel node.


Assuntos
Neoplasias da Mama , Biópsia de Linfonodo Sentinela , Axila/patologia , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Feminino , Humanos , Excisão de Linfonodo , Estadiamento de Neoplasias , Qualidade de Vida , Resultado do Tratamento
11.
Chirurgia (Bucur) ; 113(2): 266-269, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29733021

RESUMO

Meckel's diverticulum is a congenital anomaly which can become complicated or remain asymptomatic throughout life. During pregnancy, however, diverticulum infection could become a serious complication. Diverticulum necrosis and perforation are complications that increase morbidity in pregnancy, both maternal and fetal. The rarity of the condition and the maternal physiological changes in pregnancy make the diagnosis difficult. We present the case of a Meckel's diverticulum gangrene in third trimester pregnancy, atypical case due to advanced pregnancy where the risk-benefit balance was carefully evaluated on one hand because of the risk of infection associated with expectant management and on the other hand the risk and complications of iatrogenic preterm premature birth. The outcome was favorable for both mother and newborn.


Assuntos
Infarto/etiologia , Infarto/cirurgia , Divertículo Ileal/complicações , Divertículo Ileal/cirurgia , Complicações na Gravidez , Terceiro Trimestre da Gravidez , Anormalidade Torcional/complicações , Anormalidade Torcional/cirurgia , Adulto , Cesárea , Feminino , Humanos , Infarto/diagnóstico por imagem , Divertículo Ileal/diagnóstico por imagem , Gravidez , Anormalidade Torcional/diagnóstico por imagem , Anormalidade Torcional/etiologia , Resultado do Tratamento
12.
Healthcare (Basel) ; 12(9)2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38727501

RESUMO

BACKGROUND: It is well-known that the uncertainty about the COVID-19 pandemic has an indirect negative impact on pregnant women's mental health, given the fact that pregnant women are more vulnerable emotionally and psychologically than non-pregnant women. The aim of this study was to evaluate the maternal psychological impact on Romanian women who were infected with SARS-CoV-2 during pregnancy and their concerns and to determine which are the best measures to prevent negative outcomes. METHODS: A 40-item questionnaire was created for data collection and was shared on social platforms (Facebook and Instagram) and also with obstetric communities between February 2021 and January 2023. Our cross-sectional survey recruited 317 Romanian pregnant women who suffered from SARS-CoV-2 infection. Among general questions about their life and pregnancy during the pandemic, the survey included questions about their SARS-CoV-2 infection during pregnancy, their concerns and how they perceived this period in order to evaluate their emotional status. RESULTS: Of 317 women recruited, 91% of them had a mild to moderate form of COVID-19, and 2% had serious symptoms. Only 9% of women were hospitalized, 4% of women considered that the SARS-CoV-2 infection affected their physical condition to a great extent, and 8% considered to be affected in terms of mental state to a great extent. The main negative feelings of pregnant women during the COVID-19 disease were the fear regarding the possibility of affecting the pregnancy and the concern for their life (51.4%). These increase the risk of developing anxiety or depression. Pregnant women who contracted SARS-CoV-2 infection faced negative feelings, especially those with a severe form of the disease or who recovered with difficulty after the disease. Patients who required hospitalization reported an impairment of the mental state to a great extent and to a very great extent with a frequency of approximately two times and four times higher than non-hospitalized patients, respectively (p < 0.05 and p < 0.001, respectively). Also, giving birth during SARS-CoV-2 and the difficulty of accessing medical services represented a high level of stress. Also, 47% of patients who reported difficulty accessing medical services during the illness evaluated their mental state significantly less favorably. CONCLUSION: Preventive measures are essential to minimizing the negative psychological impact of COVID-19 disease during pregnancy among pregnant women. The medical treatment of COVID-19 disease during pregnancy should be prioritized, but emotional and mental health support must also be provided.

13.
Audiol Res ; 14(3): 507-517, 2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38920964

RESUMO

Congenital hearing loss is a significant global health concern that affects millions of newborns and infants worldwide, posing substantial challenges for affected individuals, their families, and healthcare systems. This condition, present at birth, can stem from genetic factors, in utero exposures, infections, or complications during pregnancy or childbirth. The spectrum of congenital hearing loss ranges from mild to profound, impacting the development of speech, language, and cognitive skills, thereby influencing educational achievements, social integration, and future employment opportunities. Early detection and intervention strategies, such as newborn hearing screenings, genetic counseling, and the use of hearing aids or cochlear implants, are crucial for mitigating these impacts. This review article aims to explore the diagnostic approaches and management strategies for congenital cytomegalovirus-related hearing loss, emphasizing the importance of interdisciplinary care and the potential for technological advances to improve outcomes for affected individuals.

14.
Diagnostics (Basel) ; 12(11)2022 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-36428904

RESUMO

Umbilical cord prolapse can be a life-threatening obstetrical event involving the fetus due to sudden oxygenated blood flow obstruction. These types of events most often happen in labor and are associated with obstetric maneuvers. Rarely, a clinical examination can diagnose the condition, but the situation is usually detected secondary to an abnormal cardiotocography trace. We present several clinical cases where a CTG trace was used to infer umbilical cord prolapse.

15.
Maedica (Bucur) ; 17(2): 505-508, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36032607

RESUMO

Prenatal sonographic assessment of the posterior fossa in the mid-sagittal plane at 11-14 weeks' gestation has been highlighted as an essential diagnostic step by the current literature. This approach is used for the early detection of open spina bifida during the first trimester by analyzing the three spaces of the posterior fossa: brain stem, the fourth ventricle and cisterna magna. Abnormal size of fetal posterior fossa spaces is an important sign in the diagnosis of fetuses with central nervous system malformation and needs to be submitted for differential diagnosis when any alterations are observed. Among them, Dandy-Walker malformation is one of the major causes of congenital hydrocephalus, being a rare condition, with poor-prognosis, manifested by enlarged posterior fossa. On the basis of available evidence, the assessment of the fetal posterior cranial fossa is feasible from 11 to 14 weeks gestational age and it is believed that abnormal appearance of the posterior fossa at this stage of pregnancy could improve early detection of Dandy-Walker malformation by prompting an early second trimester ultrasound evaluation.

16.
Children (Basel) ; 10(1)2022 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-36670617

RESUMO

We describe the case of a newborn with the antenatal onset of hepatic failure, which has been investigated for all etiologies that can cause liver damage: infectious, metabolic, genetic, and immune. The lack of a clear answer regarding the etiology and the response to immunoglobulin therapy led us to the diagnosis of gestational alloimmune liver disease. Gestational alloimunne liver disease is an uncommon and very severe cause of neonatal acute liver failure (NALF). Initially, the therapeutic approach aimed at correcting the effects produced by iron loading, respectively, iron chelators and antioxidants. Since all aspects of this case indicated characteristic features typical for GALD, therapy with intravenous immunoglobulins (IVIG) was introduced. If such therapy alters the prognosis of newborns with GALD, the etiology and pathophysiology remain uncertain. However, in cases regarding severe hepatic failure with the perinatal onset and apparently unknown etiology, immunoglobulin or exchange transfusion therapy should be taken into account even before finalizing all the etiological investigations. The prognosis is uncertain and varies between clinical resolution, chronic hepatitis/cirrhosis, and the need for a hepatic transplant, and overall survival depends on prompt therapeutic intervention.

17.
Maedica (Bucur) ; 16(4): 681-684, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35261671

RESUMO

Background: RhD alloimmunization remains a severe problem worldwide, but its management has been revolutionized by two important discoveries: the possibility to establish fetal Rh genotype non-invasively by using a maternal blood sample, and using of Doppler velocimetry to monitor early signs of affected fetuses. Materials and methods: We performed a literature review by searching PubMed for relevant information about diagnosis, prognosis, and management of secondary affected Rh alloimmunized pregnancies. Results:The risk to develop fetal anemia and hydrops seems to increase with increasing concentrations of Rh antibodies, and studies show it is higher for subsequent pregnancies. Individuals presenting the DEL phenotype with the types 1, 2 or 3 can be considered RhD positive and anti-D immune globulin is not indicated. Discussions: Medical algorithm involves previous pregnancy history together with serum parameters. Follow-up in a department of maternal fetal medicine is desired and encouraged in these cases. Depending on the severity and woman's previous pregnancy history, especially condition prior to 24 weeks of gestation, several therapies such as plasmaphereses, intravenous immune globulin or intrauterine transfusions can be conducted. Intrauterine transfusions have a better prognosis when performed earlier and on fetuses without hydrops. Conclusion:Although the incidence of hemolytic disease of the fetus and newborn has decreased and is no longer a major cause of perinatal mortality, vigilance is still required. There is a strong argument for reunite the management of these cases in dedicated maternal fetal medicine centers that perform invasive procedures in order to improve knowledge, gain skills and enhance clinical management.

18.
Diagnostics (Basel) ; 11(1)2021 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-33478103

RESUMO

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

19.
Maedica (Bucur) ; 16(4): 713-716, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35261676

RESUMO

Endometriosis is a frequent gynecological disease among women of reproductive age, a benign condition with an uncertain etiology, but with multiple theories being proposed as main mechanisms of development. Perineal endometriosis is an uncommon condition, with various theories about its pathogenesis including the contiguous propagation of endometrial tissue over the episiotomy perineal scar. A 36-year-old woman, G2 P2, presented with cyclic inflammation and pain in the episiotomy area, with significant impairment of her daily quality of life. Clinical examination revealed a palpable mass in the episiotomy area and a probable clinical diagnosis of perineal scar endometriosis was considered, with further investigation being recommended. The patient was surgically treated by local excision of the perineal mass and the histopathologic examination of the mass confirmed the diagnosis of perineal endometriosis in the episiotomy scar. Although perineal endometriosis remains a rare condition, it should be considered in all patients with an anterior vaginal delivery and a painful perineal mass during menstrual cycle, a wide excision of the affected tissue remaining the best option for a permanent cure.

20.
J Med Life ; 14(5): 722-725, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35027977

RESUMO

Facial dysostoses are clinically and genetically heterogeneous conditions characterized by congenital craniofacial anomalies which result from abnormal development of the first two pharyngeal arches and their derivatives during embryogenesis. Mandibulofacial dysostosis Guion-Almeida type (MFDGA) is a rare and relatively new syndrome described in the literature, first identified by Guion-Almeida et al. in 2000 and 2006. Another 108 cases have been documented after that. Prenatal diagnosis of this syndrome has not been described yet. Here we present the prenatal ultrasound findings in a case where MFDGA was confirmed after delivery. We suggest that MFDGA should be included in the prenatal differential diagnosis of syndromes with micrognathia and craniofacial anomalies.


Assuntos
Deficiência Intelectual , Disostose Mandibulofacial , Feminino , Humanos , Disostose Mandibulofacial/diagnóstico por imagem , Disostose Mandibulofacial/genética , Fatores de Alongamento de Peptídeos , Gravidez , Ribonucleoproteína Nuclear Pequena U5 , Síndrome
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