scholarly journals Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes

2020 ◽  
Vol 23 (2) ◽  
pp. 103-106
Author(s):  
VL Spasova ◽  
LI Koleva ◽  
DI Toncheva ◽  
VI Karamisheva
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Bacterial Colonization ◽  
Genetic Disorder ◽  
Vital Signs ◽  
Forced Expiratory Volume ◽  
Rare Mutation ◽  
Normal Limits ◽  
The Right ◽  
Common Genetic Disorder

Abstract The aim of this case report was to show the consequences of pregnancy in a cystic fibrosis (CF) patient with a rare mutation. We present a case of a patient with CF, pregnant for the second time, who gave birth to a healthy child. Her mutation status revealed the presence of relatively rare mutation c.3718-2477C>T that is associated with a milder phenotype of the disease. During pregnancy, her vital signs were within normal limits. She had no exacerbations after the third gestational month. Cystic fibrosis is the most common genetic disorder among Caucasians. Over the last few decades, the survival rate and the lifespan of patients with CF have increased progressively. This is why more affected women are choosing to become pregnant. Predictive factors for the pregnancy outcome are basal pulmonary function [measured by forced expiratory volume/1 second (FEV1)], nutritional status [measured by body mass index (BMI)], diabetes and bacterial colonization. The report of our case emphasizes the need for establishing the exact mutations in CF patients who plan to become pregnant in order to predict the possible outcomes of this specific period of life. Moreover, genetic counseling is strongly recommended for the right understanding of the pregnancy risks in such cases.

scholarly journals Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome

2006 ◽  
Vol 64 (4) ◽  
pp. 1023-1026 ◽  
Author(s):  
Mônica Jaques Spinosa ◽  
Paulo Breno Noronha Liberalesso ◽  
Simone Carreiro Vieira ◽  
Alaídes Susana Fojo Olmos ◽  
Alfredo Löhr Júnior
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Refractory Epilepsy ◽  
Genetic Disorder ◽  
Ductus Arteriosus ◽  
Ambiguous Genitalia ◽  
Second Child ◽  
Neonatal Onset ◽  
The Right ◽  
Male Genotype

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

scholarly journals Gastrointestinal stromal tumor resulting in recurrent colic in a arabian horse gelding a report of case

2020 ◽  
Vol 4 (1) ◽  
pp. 048-050
Author(s):  
Briceño Abelardo Morales ◽  
Oliva Harmon
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Body Condition Score ◽  
Vital Signs ◽  
Abdominal Ultrasound ◽  
Stromal Tumor ◽  
Normal Limits ◽  
Eosinophilic Cytoplasm ◽  
Arabian Horse ◽  
The Right ◽  
Adjacent Segments

Background: A Grey 12-year-old Arabian endurance horse gelding was referred to the SHS Veterinary Center for anorexia, mild colic of 5 days duration, and melena of 1 day duration. The owner reported recurring colic, 12 episodes of mild colic in the previous year. Methods: On admission, vital signs were within normal limits and body condition score was estimated to be 3/9. Results: Packed cell volume (PCV) was 28% [reference range (RR): 31% to 47%] and plasma total protein was 58 g/L (RR: 60 to 80 g/L). Hematochezia was observed. Abdominal ultrasound examination detected no abnormalities. Over the next 12 h, the horse experienced hematochezia and several mild episodes of colic and death. A necropsy was performed. A mass arising from the right dorsal ascending colon near the base of the cecum and extending transmurally from the colonic mucosa into the mesocolon was a 8 cm × 5 cm × 8 cm firm, homogenous, tan mass. The portion of the mass that extended into the colonic lumen was pedunculated, with an ulcerated surface. The adjacent segments of colon were markedly reddened and edematous. Histologically, the mass was comprised of large interweaving sheets of small, spindle cells with ill-defined cell borders embedded in abundant myxomatous matrix. Tumor cells contained scant eosinophilic cytoplasm and oval to elongate nuclei with finely stippled chromatin and inconspicuous nucleoli. Mitotic figures were rare (1/10) high power fields. Tumor infiltrated between the muscularis interna and the muscularis externa at the myenteric plexi. Conclusion: Gross and histologic appearance, were consistent with a diagnosis of gastrointestinal stromal tumor.

scholarly journals Cardiorespiratory fitness on a treadmill in an adult cystic fibrosis population

2020 ◽  
Vol 6 (1) ◽  
pp. e000765
Author(s):  
Ole Torvanger ◽  
Audun Os ◽  
Ole Henning Skjonsberg ◽  
Elisabeth Edvardsen
Keyword(s):  
Cystic Fibrosis ◽  
Oxygen Saturation ◽  
Cardiorespiratory Fitness ◽  
Minute Ventilation ◽  
Peak Oxygen Uptake ◽  
Forced Expiratory Volume ◽  
Limiting Factors ◽  
Exercise Tests ◽  
Normal Limits ◽  
Cystic Fibrosis Population

Objectives(1) To describe the cardiorespiratory fitness (CRF) in an adult cystic fibrosis population related to sex and age, (2) to evaluate the cause of low CRF and (3) to study the association between peak oxygen uptake (VO2peak) and forced expiratory volume in 1 s (FEV1).MethodsA total of 204 cardiopulmonary treadmill exercise tests (CPETs) performed by 116 patients were included. VO2peak, gas exchange, heart rate, oxygen saturation and ventilatory variables were measured.A low CRF was defined as a VO2peak <80% of predicted, ventilatory limitation was defined as a breathing reserve <15%, exercise hypoxaemia was defined as an oxygen saturation <88% and ventilation-perfusion mismatch was defined as a minute ventilation/ventilatory equivalent for carbon dioxide slope ≥34. In patients who had performed three or more CPETs, the annual change in FEV1 and VO2peak were calculated using linear regression.ResultsThe VO2peak was 40.6±11.5 and 35.2±8.9 mL kg−1 min−1, which was 87±23 and 93±20 in percentage of predicted for men and women, respectively. VO2peak was moderately affected by age, for men (r=−0.36, p<0.001) and women (r=−0.53, p<0.001), respectively. In 45 of 101 tests where CRF was low, no cardiorespiratory limiting factors were identified. The correlation coefficient between VO2peak and FEV1 was r=0.64 (p<0.001). In participants with a low CRF, FEV1 ranged from 20% to 112% of predicted.ConclusionsThe correlation between VO2peak and FEV1 was moderate. The majority of the tests resulted in a VO2peak within normal limits. Interestingly, 44% of the tests with a low VO2peak could be explained by deconditioning. Thus, exercise therapy may be beneficial for these patients.

scholarly journals Ovarian Pregnancy

2019 ◽  
Vol 3 (2) ◽  
pp. 142-150
Author(s):  
Widayat Widayat ◽  
Ariadi Ariadi
Keyword(s):  
Case Report ◽  
Ectopic Pregnancy ◽  
Ovarian Cyst ◽  
Ultrasound Examination ◽  
First Trimester ◽  
Tubal Ectopic Pregnancy ◽  
Ovarian Pregnancy ◽  
Normal Limits ◽  
Laparoscopic Intervention ◽  
The Right

Objective: To report cases of ovarian pregnancyMaterials and Methods: This article describes a case report of a 33 year old woman, with a diagnosis of Ovarian Pregnancy at 6-7 weeks gravid G2P0A1H0. The patient came to the emergency room Dr. M. Djamil Padang. The ultrasound examination gives the impression of an ectopic pregnancy in the right ampulla tube. After laparoscopy, an ectopic pregnancy was seen in the right ovary without bleeding. Right ovarian pregnancy impression. Partial Oophorectomy was performed and tissue evacuation with bleeding during the procedure ± 30 cc.Results: Patients receiving laparoscopic intervention showed an ectopic pregnancy in the right ovary without bleeding, the left ovary was within normal limits. Right ovarian pregnancy impression. Partial Oophorectomy was performed and tissue evacuation with bleeding during the procedure ± 30 cc. The tissue was examined for histology of anatomic pathology.Conclusion: Ovarian pregnancy is one of the rarest forms of ectopic pregnancy, it is sometimes difficult to diagnose because it can be confused with tubal ectopic pregnancy or hemorrhagic ovarian cyst. Pregnancy ovaries can rupture in the first trimester of pregnancy.Keywords: Ovarian Pregnancy, Laparoscopy, Partial Oophorectomy

scholarly journals Blunted perception of neural respiratory drive and breathlessness in patients with cystic fibrosis

2016 ◽  
Vol 2 (1) ◽  
pp. 00057-2015 ◽  
Author(s):  
Charles C. Reilly ◽  
Caroline J. Jolley ◽  
Caroline Elston ◽  
John Moxham ◽  
Gerrard F. Rafferty
Keyword(s):  
Cystic Fibrosis ◽  
Total Lung Capacity ◽  
Forced Expiratory Volume ◽  
Respiratory Drive ◽  
Healthy Individuals ◽  
Surface Electrodes ◽  
Lung Capacity ◽  
Clinically Significant ◽  
The Right ◽  
The Relationship

The electromyogram recorded from the diaphragm (EMGdi) and parasternal intercostal muscle using surface electrodes (sEMGpara) provides a measure of neural respiratory drive (NRD), the magnitude of which reflects lung disease severity in stable cystic fibrosis. The aim of this study was to explore perception of NRD and breathlessness in both healthy individuals and patients with cystic fibrosis. Given chronic respiratory loading and increased NRD in cystic fibrosis, often in the absence of breathlessness at rest, we hypothesised that patients with cystic fibrosis would be able to tolerate higher levels of NRD for a given level of breathlessness compared to healthy individuals during exercise.15 cystic fibrosis patients (mean forced expiratory volume in 1 s (FEV1) 53.5% predicted) and 15 age-matched, healthy controls were studied. Spirometry was measured in all subjects and lung volumes measured in the cystic fibrosis patients. EMGdi and sEMGpara were recorded at rest and during incremental cycle exercise to exhaustion and expressed as a percentage of maximum (% max) obtained from maximum respiratory manoeuvres. Borg breathlessness scores were recorded at rest and during each minute of exercise.EMGdi % max and sEMGpara % max and associated Borg breathlessness scores differed significantly between healthy subjects and cystic fibrosis patients at rest and during exercise. The relationship between EMGdi % max and sEMGpara % max and Borg score was shifted to the right in the cystic fibrosis patients, such that at comparable levels of EMGdi % max and sEMGpara % max the cystic fibrosis patients reported significantly lower Borg breathlessness scores compared to the healthy individuals. At Borg score 1 (clinically significant increase in breathlessness from baseline) corresponding levels of EMGdi % max (20.2±12% versus 32.15±15%, p=0.02) and sEMGpara % max (18.9±8% versus 29.2±15%, p=0.04) were lower in the healthy individuals compared to the cystic fibrosis patients.In the cystic fibrosis patients EMGdi % max at Borg score 1 was related to the degree of airways obstruction (FEV1) (r=−0.664, p=0.007) and hyperinflation (residual volume/total lung capacity) (r=0.710, p=0.03). This relationship was not observed for sEMGpara % max.These data suggest that compared to healthy individuals, patients with cystic fibrosis can tolerate much higher levels of NRD before increases in breathlessness from baseline become clinically significant. EMGdi % max and sEMGpara % max provide physiological tools with which to elucidate factors underlying inter-individual differences in breathlessness perception.

scholarly journals Pulmonary exacerbations as a risk factor for lung function decline-experiences of the National Cystic Fibrosis Center

2019 ◽  
Vol 76 (11) ◽  
pp. 1110-1114
Author(s):  
Bojana Gojsina ◽  
Milan Rodic ◽  
Jelena Visekruna ◽  
Goran Trajkovic ◽  
Aleksandar Sovtic ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Function ◽  
Burkholderia Cepacia ◽  
Negative Impact ◽  
Bacterial Colonization ◽  
Forced Expiratory Volume ◽  
Lung Function Decline ◽  
Pulmonary Exacerbations ◽  
Fev1 Decline

Background/Aim. Pulmonary exacerbations have negative impact on clinical course of cystic fibrosis (CF) lung disease being associated with a steeper decline in the lung function, unfavorable prognosis and impaired quality of life. The aim of this study was to determine whether an increased number of exacerbations had influence on the lung function in the patients with CF, as well as to estimate the nutritional status, gender, presence of comorbid conditions and bacterial colonization of airways as predictive factors for pulmonary exacerbations. Methods. This retrospective cohort study included 83 pediatric and adult patients, treated from 2011? 2015 in the Mother and Child Health Institute of Serbia ?Dr Vukan Cupic?. The best result of forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC) in each year of follow-up was taken into account to calculate the five-year trend values of these indicators. The number of exacerbations per year of follow-up and its impact on the FEV1 decline was evaluated. Results. Mean annual decline of FEV1 and FVC were 2.4% and 1.7% respectively. The malnourished patients had the lower initial values of FEV1 and FVC, and more frequent exacerbations in comparison with the normal weight and overweight patients. The frequency of exacerbations was significantly higher in the patients chronically colonized with Burkholderia cepacia (p = 0.023). The increased number of exacerbation was proved to be the most important factor in a prediction of FEV1 decline over time (p = 0.013). Conclusion. Pulmonary exacerbations lead to the more progressive lung function decline in the patients with CF. Malnourishment and chronic airway colonization with Burkholderia cepacia result in more frequent pulmonary exacerbations.

scholarly journals Alginate-regulating genes are identified in the clinical cystic fibrosis isolate ofPseudomonas aeruginosaPA2192

2018 ◽  
Author(s):  
Brett Colbert ◽  
Hansi Kumari ◽  
Ana Piñon ◽  
Lior Frey ◽  
Sundar Pandey ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sigma Factor ◽  
Bacterial Colonization ◽  
Genetic Disorder ◽  
Clinical Strain ◽  
Coding Region ◽  
Alginate Production ◽  
Gene Coding ◽  
Cystic Fibrosis Isolate

ABSTRACTCystic fibrosis (CF) is a genetic disorder that leads to a buildup of mucus in the lungs ideal for bacterial colonization. WhenPseudomonas aeruginosaenters the CF lung, it undergoes a conversion from nonmucoid to mucoid; colonization by a mucoid strain ofP. aeruginosagreatly increases mortality. The mucoid phenotype is due to the production of alginate. The regulator of alginate production is the AlgT/U sigma factor. The observed phenotypic conversion is due to a mutation in themucAgene coding for an anti-sigma factor, MucA, which sequesters AlgT/U. This mucoid phenotype is unstable when the strains are removed from the lung as they acquire second-site mutations. Thisin vitroreversion phenomenon is utilized to identify novel genes regulating alginate production. Previously, second-site mutations were mapped toalgT/U, algO,andmucP, demonstrating their role in alginate regulation. Most of these studies were performed using a non-CF isolate. It was hypothesized that second site mutations in a clinical strain would be mapped to the same genes. In this study, a clinical, hyper-mucoidP. aeruginosastrain PA2192 was used to study the reversion phenomenon. This study found that PA2192 has a novelmucAmutation which was named themmucA180allele. Twelve colonies were sub-cultured for two weeks without aeration at room temperature in order to obtain nonmucoidsuppressors ofalginateproduction(sap). Only 41sapmutants were stable for more than 48 hours — a reversion frequency of 3.9% as compared to ~90% in laboratory strains showing that PA2192 has a stable mucoid phenotype. This phenotype was restored in 28 of the 41sapmutants when complemented with plasmids harboringalgT/U. Four of thesapmutants are complemented byalgO. Sequence analyses of thealgT/Umutants have found no mutations in the coding region or promoter leading to the hypothesis that there is another, as yet unidentified mechanism of alginate regulation in this clinical strain.

scholarly journals Manual Acupuncture Effect on Vertigo and Tinnitus in Patient with Labyrinthitis: A Case Report

2021 ◽  
Vol 7 (2) ◽  
pp. 94
Author(s):  
Cindy Notonegoro ◽  
Christina Simadibrata
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Vital Signs ◽  
Manual Acupuncture ◽  
Common Cause ◽  
Therapeutic Modalities ◽  
Normal Limits ◽  
Keywords Acupuncture ◽  
Acupuncture Effect ◽  
Romberg Test

Labyrinthitis is an inflammatory disease of the inner ear perilymphatic cavity and the most common cause of prolonged spontaneous vertigo.  Other symptoms are tinnitus and sensorineural hearing loss.  Acupuncture is one of the non-pharmacological therapeutic modalities to improve symptoms of labyrinthitis. A 54-year-old woman complained of vertigo that is preceded by tinnitus in both ears since the last 6 months.  She was diagnosed with labyrinthitis.  Had taken amoxicillin and decadryl for 5 days, betaserc and dimenhydrinate when she felt dizzy, and amlodipine as a routine drug for her hypertension.  Physical examination showed vital signs within normal limits, grade 2 obesity, positive Romberg test, and THI score 18.  Manual acupuncture was performed at acupoints GV20, GB20, TE17, TE21, SI19, GB2, GB8, TE5, LI4, KI3, PC6 and LR3 with 20 minutes retention.  After the first therapy, vertigo complaints disappeared and after 12 treatments (twice a week), frequency and intensity of tinnitus became less, with THI score of 6. Therefore, acupuncture can relieve vertigo and improve tinnitus which can be seen by a decrease of THI score. Keywords: acupuncture, labyrinthitis, tinnitus, vertigo

scholarly journals Bilateral Cryptophthalmus: First Case Report from Nepal

2021 ◽  
Vol 13 (2) ◽  
pp. 211-218
Author(s):  
Nayana Pant ◽  
Subash Bhatta ◽  
Gulshan Bahadur Shrestha ◽  
Madhu Thapa
Keyword(s):  
Case Report ◽  
Genetic Disorder ◽  
Ocular Tissue ◽  
Amniotic Membrane Transplantation ◽  
Upper Eyelid ◽  
First Case ◽  
Continuous Sheet ◽  
Male Neonate ◽  
The Right ◽  
Orbital Region

Introduction: Cryptophthalmus is characterized by a partial or complete casing of the eyeball by the skin. Cryptophthalmus alongside other systemic abnormalities is well-known as Fraser syndrome. It is an unusual genetic disorder with limited literature. The complexities of disease and limited experience pose challenges in its management. Case: A two-day-male neonate was brought by his parents with a complaint of swelling in the right orbital region and deformed left eye since birth. Examination revealed bilobed globular swelling in the right orbital region covered by a continuous sheet of skin from forehead to cheek with no visible ocular tissue. On the left side, there was absence of upper lid margin and eyelashes and superior symblepharon. He also had bilateral ear abnormalities and right renal agenesis. Surgical intervention was done. On the right side, removal of the globe and cyst was done. On the left side, upper eyelid reconstruction with symblepharon release was done with amniotic membrane transplantation. Conclusions: The management of cryptophthalmus is challenging. Reconstructive surgeries allow cosmesis but useful vision is rarely gained. This is the first case report from Nepal to date to the best of our knowledge.

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