scholarly journals Management of uncommon disorders in pregnancy: Von Hippel–Lindau disease, Gitelman syndrome, and Nutcracker syndrome

2016 ◽  
Vol 10 (3) ◽  
pp. 138-141 ◽  
Author(s):  
Basma Merhi ◽  
Margaret Miller ◽  
Aviya Lanis ◽  
Brittany Katz ◽  
Tiffany Hsu ◽  
...  
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Current Data ◽  
Gitelman Syndrome ◽  
Nutcracker Syndrome ◽  
Fetal Outcomes ◽  
Renal Disorders ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
In Pregnancy

Uncommon renal disorders in pregnancy can be challenging to manage given limited evidence in the literature to guide management. We present a series of three uncommon renal disorders in pregnancy: Von Hippel–Lindau disease, Gitelman syndrome, and Nutcracker syndrome. Previously published case reports with differing outcomes offer some guidance to the management of these disorders in pregnancy. In this case series, we address the management of these syndromes during pregnancy and discuss the maternal and fetal outcomes. All three of our patients had good maternal and fetal outcomes, which will contribute to current data on maternal and fetal outcomes in these rare diseases, which is limited.

scholarly journals Leptospirosis in pregnancy: A systematic review

2021 ◽  
Vol 15 (9) ◽  
pp. e0009747
Author(s):  
Sujitha Selvarajah ◽  
Shaolu Ran ◽  
Nia Wyn Roberts ◽  
Manisha Nair
Keyword(s):  
Systematic Review ◽  
General Population ◽  
Case Reports ◽  
Case Series ◽  
Diagnostic Methods ◽  
Differential Diagnoses ◽  
Fetal Outcomes ◽  
Quality Reporting ◽  
Endemic Areas ◽  
In Pregnancy

Introduction Leptospirosis is a leading zoonotic disease worldwide with more than 1 million cases in the general population per year. With leptospirosis being an emerging infectious disease and as the world’s environment changes with more floods and environmental disasters, the burden of leptospirosis is expected to increase. The objectives of the systematic review were to explore how leptospirosis affects pregnancy, its burden in this population, its effects on maternal and fetal outcomes and the evidence base surrounding treatment options. Methods We performed a systematic review of published and unpublished literature using automated and manual methods to screen nine electronic databases since inception, with no language restriction. Two reviewers independently screened articles, completed the data extraction and assessment of risk of bias. Due to significant heterogeneity and paucity of data, we were unable to carry out a meta-analysis, but we conducted a pooled analysis of individual patient data from the case reports and case series to examine the patient and disease characteristics, diagnostic methods, differential diagnoses, antibiotic treatments, and outcomes of leptospirosis in pregnancy. The protocol for this review was registered on the International Prospective Register of Systematic Reviews, PROSPERO: CRD42020151501. Results We identified 419 records, of which we included eight observational studies, 21 case reports, three case series and identified four relevant ongoing studies. Overall the studies were with moderate bias and of ‘fair’ quality. We estimated the incidence of leptospirosis in pregnancy to be 1.3 per 10,000 in women presenting with fever or with jaundice, but this is likely to be higher in endemic areas. Adverse fetal outcomes were found to be more common in pregnant patients who presented in the second trimester compared with patients who presented in the third trimester. There is overlap between how leptospirosis presents in pregnancy and in the general population. There is also overlap between the signs, symptoms and biochemical disturbances associated with leptospirosis in pregnancy and the presentation of pregnancy associated conditions, such as Pre-Eclampsia (PET), Acute Fatty Liver of Pregnancy (AFLP) and HELLP Syndrome (Haemolysis Elevated Liver enzymes Low Platelets). In 94% of identified cases with available data, there was an indicator in the patient history regarding exposure that could have helped include leptospirosis in the clinician’s differential diagnosis. We also identified a range of suitable antibiotic therapies for treating leptospirosis in pregnancy, most commonly used were penicillins. Conclusion This is the first systematic review of leptospirosis in pregnancy and it clearly shows the need to improve early diagnosis and treatment by asking early, treating early, and reporting well. Ask early—broaden differential diagnoses and ask early for potential leptospirosis exposures and risk factors. Treat early—increase index of suspicion in pregnant patients with fever in endemic areas and combine with rapid field diagnosis and early treatment. Report well—need for more good quality epidemiological studies on leptospirosis in pregnancy and better quality reporting of cases in literature.

scholarly journals Visceral Leishmaniasis in pregnancy and vertical transmission: A systematic literature review on the therapeutic orphans

2021 ◽  
Vol 15 (8) ◽  
pp. e0009650
Author(s):  
Prabin Dahal ◽  
Sauman Singh-Phulgenda ◽  
Brittany J. Maguire ◽  
Eli Harriss ◽  
Koert Ritmeijer ◽  
...  
Keyword(s):  
Visceral Leishmaniasis ◽  
Pregnant Women ◽  
Amphotericin B ◽  
Vertical Transmission ◽  
Liposomal Amphotericin ◽  
Case Reports ◽  
Case Series ◽  
Liposomal Amphotericin B ◽  
Cochrane Central Register ◽  
In Pregnancy

Background Reports on the occurrence and outcome of Visceral Leishmaniasis (VL) in pregnant women is rare in published literature. The occurrence of VL in pregnancy is not systematically captured and cases are rarely followed-up to detect consequences of infection and treatment on the mother and foetus. Methods A review of all published literature was undertaken to identify cases of VL infections among pregnant women by searching the following database: Ovid MEDLINE; Ovid Embase; Cochrane Database of Systematic Reviews; Cochrane Central Register of Controlled Trials; World Health Organization Global Index Medicus: LILACS (Americas); IMSEAR (South-East Asia); IMEMR (Eastern Mediterranean); WPRIM (Western Pacific); ClinicalTrials.gov; and the WHO International Clinical Trials Registry Platform. Selection criteria included any clinical reports describing the disease in pregnancy or vertical transmission of the disease in humans. Articles meeting pre-specified inclusion criteria and non-primary research articles such as textbook, chapters, letters, retrospective case description, or reports of accidental inclusion in trials were also considered. Results The systematic literature search identified 272 unique articles of which 54 records were included in this review; a further 18 records were identified from additional search of the references of the included studies or from personal communication leading to a total of 72 records (71 case reports/case series; 1 retrospective cohort study; 1926–2020) describing 451 cases of VL in pregnant women. The disease was detected during pregnancy in 398 (88.2%), retrospectively confirmed after giving birth in 52 (11.5%), and the time of identification was not clear in 1 (0.2%). Of the 398 mothers whose infection was identified during pregnancy, 346 (86.9%) received a treatment, 3 (0.8%) were untreated, and the treatment status was not clear in the remaining 49 (12.3%). Of 346 mothers, Liposomal amphotericin B (L-AmB) was administered in 202 (58.4%) and pentavalent antimony (PA) in 93 (26.9%). Outcomes were reported in 176 mothers treated with L-AmB with 4 (2.3%) reports of maternal deaths, 5 (2.8%) miscarriages, and 2 (1.1%) foetal death/stillbirth. For PA, outcomes were reported in 88 mothers of whom 4 (4.5%) died, 24 (27.3%) had spontaneous abortion, 2 (2.3%) had miscarriages. A total of 26 cases of confirmed, probable or suspected cases of vertical transmission were identified with a median detection time of 6 months (range: 0–18 months). Conclusions Outcomes of VL treatment during pregnancy is rarely reported and under-researched. The reported articles were mainly case reports and case series and the reported information was often incomplete. From the studies identified, it is difficult to derive a generalisable information on outcomes for mothers and babies, although reported data favours the usage of liposomal amphotericin B for the treatment of VL in pregnant women.

Sclerotherapy in an undetected pregnancy - a catastrophe?

VASA ◽  
2012 ◽  
Vol 41 (4) ◽  
pp. 243-247 ◽  
Author(s):  
Reich-Schupke ◽  
Leiste ◽  
Moritz ◽  
Altmeyer ◽  
Stücker
Keyword(s):  
High Probability ◽  
Spontaneous Regression ◽  
Current Knowledge ◽  
Varicose Veins ◽  
Case Reports ◽  
Case Series ◽  
Current Data ◽  
Unborn Child ◽  
Retrospective Case ◽  
Increased Risk

According to the guidelines and the manufacturer‘s information, pregnancy is a contraindication for sclerotherapy with Polidocanol. However, in some cases sclerotherapy has been conducted in a period when the pregnancy is not known by the patient. When pregnancy is diagnosed, patients and gynecologists often ask the phlebologist if there is an indication for the interruption of pregnancy. Up to now, there is only rare information on sclerotherapy, polidocanol and pregnancy. Current knowledge is summed up in this article together with case reports. The existing case reports and mainly retrospective case series on intended or accidentally conducted sclerotherapy with common sclerosants and doses show no increased risk for the mother and the unborn child. However, in view of the limited literature data available and the high probability for spontaneous regression of varicose veins postpartum, sclerotherapy should be avoided in pregnancy, if possible. Conservative measures during pregnancy or an elimination of varicose veins before pregnancy should be preferred. In single cases e.g. painful genitoanal varices, the use of sclerotherapy can be helpful even during pregnancy. Thereby, a very thorough clarification of the mother with a final written consent and an implementation according to the guidelines are especially important. According to the current data, there is no reason for an interruption after a sclerotherapy that has been conducted during undetected pregnancy.

Brachytherapy for Peripheral Retinal Capillary Haemangioblastoma in von Hippel-Lindau Disease

2021 ◽  
Vol 238 (07) ◽  
pp. 781-787
Author(s):  
Sami Dalbah ◽  
Nikolaos E. Bechrakis ◽  
Henning Thomasen ◽  
Dirk Flühs ◽  
Philipp Rating ◽  
...  
Keyword(s):  
Macular Oedema ◽  
Case Series ◽  
Vitreoretinal Surgery ◽  
Complication Rates ◽  
Retrospective Case ◽  
Tumour Control ◽  
Von Hippel Lindau ◽  
Retinal Capillary ◽  
Von Hippel Lindau Disease ◽  
Epiretinal Gliosis

Abstract Aim To report our experience with 106ruthenium-brachytherapy of peripheral capillary haemangioblastomas in patients with von Hippel-Lindau disease. Design Retrospective case series. Methods A total of 53 haemangioblastomas, treated with 106ruthenium-brachytherapy, were included in our study. The applied radiation dose, visual outcome, angioma activity, need for vitreoretinal surgery and incidence of secondary complications such as macular oedema, secondary glaucoma, vitreous haemorrhage, and epiretinal gliosis were assessed. Results All treated eyes could be preserved. In 11 patients (20.8%), single brachytherapy did not achieve complete inactivation of the tumour. 31% developed macular oedema postoperatively. Tractional retinal detachment developed in 23.8%, and epiretinal gliosis was observed in 2.4% of patients. Vitreoretinal surgery was necessary in 50% of all treated eyes. At the end of the follow-up, 40.5% of all treated eyes achieved visual acuity (VA) of 0.6 or better, and one third reached a VA of less than 0.1. Mean irradiation dose to the tumour apex was 144 Gy. Higher apex doses correlated with better tumour control of irradiated haemanigoblastomas and lower complication rates. Conclusions Brachytherapy of peripheral retinal capillary haemangioblastomas is an effective treatment modality. Higher irradiation doses seem to lead to more successful treatment.

Teratogenic Risk of Statins in Pregnancy

2012 ◽  
Vol 46 (10) ◽  
pp. 1419-1424 ◽  
Author(s):  
Laura M Godfrey ◽  
John Erramouspe ◽  
Kevin W Cleveland
Keyword(s):  
Case Reports ◽  
Data Extraction ◽  
Current Trend ◽  
Case Series ◽  
Teratogenic Risk ◽  
Study Selection ◽  
Pubmed Search ◽  
Teratogenic Potential ◽  
Statin Use ◽  
In Pregnancy

Objective: To evaluate the teratogenic potential of statins in women of child-bearing age. Data Sources: A PubMed search (1980-September 2012) was performed using the search terms statin and pregnancy, then repealed using statin and teratogenicity. Results were limited to articles published in English reporting on use of statins in humans. Study Selection and Data Extraction: All articles presenting data on pregnancy outcomes after statin use during any trimester of pregnancy were included. Three case reports, 2 case series, 2 systematic reviews, 2 registry-based studies, and 1 prospective observational cohort study were reviewed. Data Synthesis: Since initial premarketing studies of lovastatin in animals, terato-genesis has been assumed to be a classwide function of statins' mechanism of action. Data from human exposure during pregnancy have been gathered and analyzed in a variety of study formats to formulate useable conclusions on statins' actual teratogenic risk and pattern of associated birth defects. Although the current trend is that actual risk is lower than once thought, the available literature is limited by potential reporting bias, contains overlap in the data, and frequently lacks numbers of total exposures to statins during pregnancy with reported malformations. Additionally, no human studies included data on the 2 newest statins (rosuvastatin, pitavastatin); the more lipophilic statins (lovastatin, simvastatin) have the most experience and thus have more evidence related to teratogenic potential. Conclusions: Human teratogenic risk has not been proven nor has it been ruled out by the available data on statin use in pregnancy. Possible differences in risk between individual statins require further evaluation. Additional data, including prospective observational cohorts with inadvertent maternal exposure to statins during early weeks of gestation, should further help to clarify appropriate recommendations for statin use in this population.

scholarly journals Characterization of Hemangioblastomas of Spinal Nerves

Neurosurgery ◽  
2005 ◽  
Vol 56 (3) ◽  
pp. 503-509 ◽  
Author(s):  
Sven Gläsker ◽  
Ansgar Berlis ◽  
Axel Pagenstecher ◽  
Vassilios I. Vougioukas ◽  
Vera Van Velthoven
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Reports ◽  
Vascular Supply ◽  
Spinal Nerve ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Clinically Significant ◽  
Permanent Neurological Deficit

Abstract OBJECTIVE: Hemangioblastoma is classified as a benign tumor of the central nervous system. Peripheral nervous system hemangioblastomas to date have been described only in a few case reports. Experience in treating patients with these rare lesions, which harbor diagnostic and therapeutic pitfalls, is limited. METHODS: To characterize these lesions better, we reviewed our hemangioblastoma database for patients who underwent surgery for extradural hemangioblastoma of the spinal nerve. RESULTS: Between 1983 and 2003, six patients underwent surgery for spinal nerve hemangioblastomas at our institution. These tumors occurred in 2% of all patients with hemangioblastomas of the central nervous system, or 6% of all patients with spinal hemangioblastomas. The occurrence did not differ in von Hippel-Lindau disease cases versus sporadic cases. Radiographically, the tumors easily could be mistaken for schwannomas or metastases; however, they did have some typical features. If a hemangioblastoma was not suspected primarily, profuse bleeding could complicate surgery. Most of the tumors arose from the dorsal sensory fascicles. The vascular supply was from extradural circulation. In general, the surgical outcome of these lesions was good, and permanent neurological deficit was rare. However, local recurrence was observed in three of six patients. CONCLUSION: These tumors harbor diagnostic and therapeutic pitfalls. In general, the tumors are surgically more challenging, and clinically significant bleeding as well as local tumor recurrence is more common than in intradural hemangioblastomas, mostly because of the frequency of incorrect initial radiographic diagnosis. We suggest that because of the surgical consequences, hemangioblastoma should always be considered to be an important radiological differential diagnosis for nerve sheath tumors. Angiography can bring clarification to ambiguous cases.

scholarly journals Repeat Percutaneous Radiofrequency Ablation of T1 Renal Cell Carcinomas is Safe in Patients with Von Hippel–Lindau Disease

2021 ◽  
Author(s):  
Joel Wessendorf ◽  
Alexander König ◽  
Hendrik Heers ◽  
Andreas H. Mahnken
Keyword(s):  
Radiofrequency Ablation ◽  
Renal Cell ◽  
Case Series ◽  
Progression Free Survival ◽  
Renal Cell Carcinomas ◽  
Ct Guided ◽  
Free Survival ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Abstract Purpose Patients with Von Hippel-Lindau disease often develop multifocal, metachronous renal cell carcinomas which require therapy. The purpose of this retrospective single-center study is to evaluate the outcomes of radiofrequency ablation (RFA) in the treatment of renal cell carcinomas in patients with Von Hippel-Lindau disease. Materials and Methods 9 patients (4 male, 5 female, 47.9 ± 10.7 y/o) with Von Hippel-Lindau disease underwent 18 CT-guided percutaneous RFA procedures for the treatment 21 renal cell carcinomas (largest diameter: 32.9 ± 8.6 mm, cT1a: 16, cT1b: 5). Seven patients were previously treated either by partial or radical nephrectomy. Technical success, effectiveness, safety, progression-free survival, overall survival and tumor characteristics were analyzed. Results All RFA procedures were technically successful without major complications. There were 5 minor complications. No residual or recurrent tumor was seen in the ablation zone during a follow-up of 34.0 ± 18.1 months (0–58 months). No patient required dialysis during follow-up. One patient died after 63 months after the first treatment due to complications from a cerebellar hemangioblastoma. No endpoint was reached for overall or progression-free survival. Conclusions The results from this limited case series suggest that RFA of RCCs in patients with VHL is a safe and effective therapy, which can preserve sufficient renal function even after renal surgery.

scholarly journals Pre-Eclampsia Strikes: Could It Be Related This Gland?

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A783-A784
Author(s):  
Jason Lofters ◽  
Nia Flemming ◽  
Latoya Gayle ◽  
Ro-Kaye Simmonds ◽  
Oluwafeyi Adedoyin ◽  
...  
Keyword(s):  
Weight Gain ◽  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Case Reports ◽  
Case Series ◽  
Stable Condition ◽  
Fetal Lung ◽  
Gradual Improvement ◽  
Normal Urine ◽  
In Pregnancy

Abstract Introduction: Primary hyperparathyroidism (PHPT) is rarely diagnosed in pregnancy and if left untreated has the potential to lead to serious maternal and neonatal complications. We describe a case of PHPT with associated complicated pre-eclampsia. Clinical Case29-year-old primigravida admitted at 33 + 6 weeks with fatigue, 10lbs weight gain and elevated BP. Labs revealed potassium 2.9 (3.5-5.2mmol/L), corrected serum calcium (Ca)11.62 (8.4-10.2mg/dL), ionized calcium 1.69 (1.15-1.33mmol/L), PTH 163.9 (15-65pg/mL) and vitamin D 24.6 (30-100ng/mL). Other labs were normal. Urine studies showed 315mg/24h proteinuria and urine calcium of 129.5 mg/24hrs (100-300mg/24hrs). She was started on magnesium sulphate along with labetalol for BP control, given betamethasone for stimulation of fetal lung maturity as well as potassium repletion. Hypercalcemia (HCa) was initially managed with fluids and Lasix intravenously. At 34 + 2 weeks she developed SOB, orthopnea, headaches with new 9lbs weight gain over 5 days and sustained BP elevation. Urgent C-section was done for pre-eclampsia with severe features. Post-operatively, she suffered from postpartum hemorrhage, managed with transfusion of packed red cells and transient placement of a Bakri balloon. Her HCa worsened with Ca 12.56 and cinacalcet was started after delivery. This coincided with gradual improvement of her BP and Ca to 10.8. She declined additional work-up and was discharged in stable condition. Clinical LessonPHPT often goes undiagnosed in pregnancy, with symptoms of fatigue and constipation mimicking common complaints of pregnancy. Studies have also suggested that up to 25% of patients with PHPT during pregnancy present with hypertension and pre-eclampsia and that there is an association between preeclampsia and the presence of parathyroid adenomas. The pathophysiology is unclear but is thought to be due to endothelial dysfunction triggered by hypercalcemia as well as abnormal placentation. No clear guidelines exist for the management of PHPT during pregnancy, with observation and rehydration being the preferred initial options. The use of cinacalcet as well as curative surgical parathyroidectomy when Ca levels persist >11 in the second trimester have also been described. Our patient presented similarly, with severe pre-eclampsia needing urgent C-section, further complicated by persistent severe HCa. Early diagnosis of PHPT, along with treatment including cinacalcet improved her Ca. It is therefore important that PHPT be considered in patients presenting like ours, progressing to severe pre-eclampsia as early reduction of serum calcium may reduce morbidity and mortality. ReferencesMcCarthy, A., Howarth, S., Khoo, S., Hale, J., Oddy, S., Halsall, D., ... & Samyraju, M. (2019). Management of primary hyperparathyroidism in pregnancy: a case series. Endocrinology, diabetes & metabolism case reports, 2019(1).

scholarly journals Pituitary stalk hemangioblastomas in von Hippel–Lindau disease

2009 ◽  
Vol 110 (2) ◽  
pp. 350-353 ◽  
Author(s):  
Russell R. Lonser ◽  
John A. Butman ◽  
Ruwan Kiringoda ◽  
Debbie Song ◽  
Edward H. Oldfield
Keyword(s):  
Case Reports ◽  
Pituitary Stalk ◽  
Anatomical Location ◽  
Clinical Effects ◽  
Laboratory Findings ◽  
Natural History Study ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Object Pituitary stalk hemangioblastomas are rare, and information on them is limited to a small number of case reports. To gain insight into the incidence, clinical effects, and management of pituitary stalk hemangioblastomas, the authors analyzed a series of patients with von Hippel–Lindau (VHL) disease. Methods Patients with VHL disease who were enrolled in a prospective National Institutes of Health natural history study were included. Clinical, imaging, and laboratory findings were analyzed. Results Two hundred fifty patients were included in the study (120 male and 130 female patients). In 8 patients (3%), 8 pituitary stalk hemangioblastomas were identified on MR imaging. This anatomical location was the most common supratentorial site for these lesions; 29% of all supratentorial hemangioblastomas were found there. The mean (± standard deviation) pituitary stalk hemangioblastoma volume was 0.5 ± 0.9 cm3 (range 0.08–2.8 cm3). Results of endocrine laboratory profiles were normal in all patients. All patients remained asymptomatic and none required treatment during the follow-up period (mean duration 41.4 ± 14.4 months). Conclusions The pituitary stalk is the most common site for the development of supratentorial hemangioblastomas in patients with VHL disease. Pituitary stalk hemangioblastomas often remain asymptomatic and do not require treatment. These findings indicate that pituitary stalk hemangioblastomas in patients with VHL disease may be managed with observation and that surgery for them can be reserved until associated signs or symptoms occur.

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