Turner syndrome in Albania and the efficacy of its treatment with growth hormone

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Petrit Hoxha ◽  
Anila Babameto-Laku ◽  
Gentian Vyshka ◽  
Klodiana Gjoka ◽  
Dorina Minxuri ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Turner Syndrome ◽  
Body Height ◽  
Delayed Puberty ◽  
Genetic Characteristics ◽  
Female Patients ◽  
Albanian Population ◽  
The Moment

AbstractThe aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5–23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

scholarly journals RETROSPECTIVE ANALYSIS OF EVENTS OF DEATH AT HOME AMONG PATIENTS UNDER FOLLOW-UP OBSERVATION

2018 ◽  
Vol 35 (1) ◽  
pp. 68-74
Author(s):  
Ya P Sandakov
Keyword(s):  
Cardiovascular Diseases ◽  
Medical Records ◽  
Emergency Calls ◽  
Significant Difference ◽  
Duration Of Disease ◽  
The Moment ◽  
Age Of Death ◽  
At Home

Aim. To study the peculiarities of asking for medical care by patients from among those dead at home, who had been under follow-up observation. Materials and methods. The data, received from ambulatory medical records of 100 dead at home patients with follow-up, were analyzed using the methods of descriptive and inductive statistics. Results. A mean age of death was 74.9 ± 13.4 years, men - 65.8 ± 14.1 years, women - 79.2 ± 10.9 years. Cardiovascular diseases were the cause of follow-up observation in 78 % of cases and the cause of death in 85 %; in 30 % of patients the disease was detected while carrying out prophylactic medical examination. A mean duration of disease by the moment of death was 13.0 ± 8.0 years, among pensioners 13.7 ± 8.5 years, in able-bodied persons 9.6 ± 4.3 years. A mean duration of follow-up observation was 9.2 ± 5.8 years. An average number of planned visits was 2.8 ± 0.89, but the number of real visits during the last year of follow-up observation was 2.4 ± 1.2. Disability was registered in 77.6 % of patients, concomitant diseases - in all patients. For the last year, exacerbations were recorded in 92 % of patients, emergency calls - in 80 %, hospitalization events - 52 %, including 55.8 % - urgent ones. Conclusions. The absence of significant difference regarding the duration of disease between pensioners and able-bodied patients (т = 0.16, р = 1.43) as well as the absence of correlation between the age and duration of disease (χ2 = 0.19, p = 0.2) indirectly prove the influence of duration of disease on its outcome, but not the age. Attendance, characterizing clinical loyalty to treatment, does not depend on age (χ2 = -0.19, р = 0.18), sex (т = 1.0, р = 0.32), way of detecting disease (f = 0.9, p = 0.4), class of main disease (f = 0.91, p = 0.44), duration of disease (χ2 = -0.13, р = 0.49), exacerbations (χ2 = -0.17, р = 0.24), concomitant diseases (χ2 = 0.006, р = 0.9). The number of emergency calls, hospitalizations, urgent hospitalizations does not depend on duration of follow-up observation, regularity and number of real visits to a doctor (p > 0.05) that indicates unsatisfactory quality of follow-up observation.

Pulmonary lymphangitis and cancer: Prospective series of 37 patients in palliative care

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 18600-18600 ◽  
Author(s):  
A. A. Dettino ◽  
E. M. Negri ◽  
T. Pagano
Keyword(s):  
Quality Of Life ◽  
Palliative Care ◽  
Short Form ◽  
Primary Tumors ◽  
Patients With Cancer ◽  
The Moment ◽  
In The Beginning ◽  
Minor Criteria

18600 Background: Lymphangitis of the lungs is an uncommon type of metastasis, mainly in breast, lung and gastric cancers, and has major impact in quality of life and an unfavorable prognosis. Survival is very poor: 50% in 3 and 15% in 6 months. Our objective was to evaluate prospectively quality of life in cancer patients with pulmonary lymphangitis, under palliative care. Methods: Patients with pulmonary lymphangitis, diagnosed either by lung biopsy (major criteria) or 3 minor criteria (cyto or histotologically proven cancer, clinical picture and image exam) were followed in 3 tertiary services, in a cohort series study. Primary end point was quality of life (QoL), measured with questionnaires in the beginning of the study and monthly afterwards (Saint George Respiratory Questionnaire -SGRQ- and Medical Outcomes Study 36-Item Short-Form Health Survey -SF36). Clinical and complementary aspects were also followed, in addition to treatment and outcome. Results: Thirty-seven patients were included from Aug/2004 to Jan/2006 - 23 female and 14 male; age from 41 to 84 (mean: 62) years. Primary tumors were: lung (20), breast (11), esophagus (2), pancreas, rectum and bone. Of those patients, 33 were able to respond QoL questionnaires in the beginning of follow-up and monthly thereafter. Median follow-up was of one month (range: 0–13); at the moment, 9 patients are still alive. Median survival was 2.5 months (range: 0,1–33), with 38% with a survival of at least 6 months. In general, QoL was poor, but improved after palliative care. Notice that values get higher as QoL improves in SF-36; however, they get lower as QoL improves in SGRQ - values were 61.5, 50.5, 61.7, and 47.5% for SGRQ and 38.1, 32.1, 32.8, 61.6 for SF36 in 0, 1, 3 and 6 months, respectively. Palliative care included: corticosteroids (65%), oxygen (51%), opioids (51%), diuretics (47%), inhalations with beta2-agonists and/or ipatropium (57%), chemo and/or hormonotherapy (51%), physical therapy (43%), antidepressants and benzodiazepines (37% each), thoracocentesis (35%), and blood transfusions. Conclusions: Even though QoL is poor and survival is short for patients with cancer lymphangitis in lungs, some improvement is possible with active palliative care. No significant financial relationships to disclose.

Familial Turner syndrome: the importance of information

2016 ◽  
Vol 29 (5) ◽  
Author(s):  
Isabel Periquito ◽  
Catarina Carrusca ◽  
Joana Morgado ◽  
Brígida Robalo ◽  
Carla Pereira ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Turner Syndrome ◽  
Unusual Case ◽  
Growth Hormone Treatment ◽  
Genetic Disorder ◽  
Hormone Treatment ◽  
Live Births ◽  
Tertiary Center ◽  
Common Genetic Disorder

AbstractTurner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum.

scholarly journals Misunderstandings in ART Triadic Interactions: A Qualitative Comparison of First and Follow-Up Visits

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria Grazia Rossi ◽  
Elena Vegni ◽  
Julia Menichetti
Keyword(s):  
Clinical History ◽  
History Taking ◽  
Qualitative Comparison ◽  
Triadic Interactions ◽  
Complex Interactions ◽  
Weak Evidence ◽  
History Of ◽  
The Moment

BackgroundMisunderstandings in medical interactions can compromise the quality of communication and affect self-management, especially in complex interactions like those in the assisted reproductive technology (ART) field. This study aimed to detect and describe misunderstandings in ART triadic visits. We compared first and follow-up visits for frequency, type, speakers, and topics leading to misunderstandings.MethodsWe purposively sampled 20 triadic interactions from a corpus of 85 visits. We used a previously developed coding scheme to detect different types of misunderstandings (i.e., with strong, acceptable, and weak evidence). We analyzed also the different topics leading to strong misunderstandings (direct expressions of lack of understanding, pragmatic alternative understandings, semantic alternative understandings) to provide insights about the contents of the consultation that may need particular attention and care.FindingsWe detected an overall number of 1078 misunderstandings in the 20 selected visits. First visits contained almost two-third of the misunderstandings (n = 680, 63%). First visits were particularly rich in misunderstandings with acceptable evidence (e.g., clarifications and checks for understanding), compared to follow-up visits. In first visits, doctors’ turns more frequently than couples’ turns contained misunderstandings, while in follow-up visits it was the other way around. Looking at the couple, the majority of the misunderstandings were expressed by the woman (n = 241, 22%) rather than by the man (n = 194, 18%). However, when weighting for their number of turns, 9% of the men’s turns included an expression of misunderstanding, compared to the 7% of the women’s turns. Finally, more than half of the misunderstandings with strong evidence were about history-taking and treatment-related topics, and while the history-taking ones were particularly frequent in first visits the treatment-related ones were more present in follow-up visits.DiscussionFindings indicate that first visits may deserve particular attention to avoid misunderstandings, as they are the moment where a shared understanding can be harder to reach. In particular, misunderstandings happening in first visits seem mostly related to physicians having to reconstruct the clinical history of patients, while those in the follow-up visits seem to reflect residual and unsolved doubts from the couple, especially concerning treatments.

Quality of Medical Follow-Up of Young Women with Turner Syndrome Treated in One Clinical Center

2012 ◽  
Vol 77 (4) ◽  
pp. 222-228 ◽  
Author(s):  
Aneta Gawlik ◽  
Barbara Kaczor ◽  
Halla Kaminska ◽  
Agnieszka Zachurzok-Buczynska ◽  
Tomasz Gawlik ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Young Women ◽  
Clinical Center

scholarly journals Impact of growth hormone treatment on children’s height

2014 ◽  
Vol 54 (6) ◽  
pp. 318
Author(s):  
Nur Rochmah ◽  
Muhammad Faizi
Keyword(s):  
Growth Hormone ◽  
Turner Syndrome ◽  
Growth Hormone Treatment ◽  
Body Height ◽  
Hormone Treatment ◽  
Post Treatment ◽  
Hormone Deficiency ◽  
Duration Of Treatment ◽  
Height Measurement ◽  
Gh Treatment

Background The use of growth hormone (GH) is a routinetreatment for growth hormone deficiency (GHD), small forgestational age (SGA), and Turner syndrome (TS). During thetreatment, height measurement at regular intervals is a vital stepto assess success. To date, there have been no previous studieson GH treatment in Dr. Soetomo Hospital, Surabaya, the referralhospital in East Indonesia.Objective To compare body height between pre- and post-growthhormone treatment in pediatric patients.Method This study was a non-randomized, pre-post clinical trialperformed at Dr. Soetomo Hospital, Surabaya. The prospectivecohort was accessed during January 2008-June 2013. Theinclusion criteria was GH treatment for more than 3 months.Clinical data on GH treatment, including diagnosis, age, heightpre-and post-treatment, height gain, duration of treatment, andparental satisfaction were collected. Two-tailed, paired T-test andPearson’s test were used for statistical analyses.Result Nineteen patients underwent GH treatment during thestudy period, but only twelve patients had complete data and wereincluded in the study. Eight subjects were female. Subjects’ meanage was 11 (range 8-15) years. Nine patients had GHD, 2 hadTS, and 1 had SGA. Mean pre-treatment height was 121.05 cm,while mean post-treatment height was 130.5 cm. Mean durationof treatment was 10.5 (range 3-30) months. Mean height gainwas 0.8 cm/month in GHD and SGA cases, and 0.78 cm/monthfor the TS cases. Eleven parents reported satisfaction with theresults of GH treatment in their children. There is significantdiffrent between pre- and post-treatment (P=0.001). Pearson’scorrelation test (r=0.90) revealed a strong correlation betweengrowth hormone treatment and height gain.Conclusion Growth hormone treatment has impact on heights inGH defficiency, Turner syndrome, and small for gestational age.

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