Purpose
To describe reasons for explantation of anterior and posterior chamber phakic intraocular lenses (pIOLs), as well as outcomes of the surgery.
Methods
The medical files of patients who ...underwent pIOL explantation due to complications were reviewed. All patients were divided into three groups based on the type of explanted pIOL: anterior chamber angle-supported (AS pIOL), anterior chamber iris-fixated (IF pIOL), and posterior chamber (PC pIOL).
Results
Sixty-two eyes of 41 patients were evaluated. There were 26 (41.9%), 16 (25.8%), and 20 (32.2%) eyes in the AS pIOL, IF pIOL, and PC pIOL groups, respectively. The mean interval between the implantation and removal of the pIOL (i.e., survival time) was 13.6 ± 8.1 years (range 0.01–21.22 years). The mean follow-up after the explantation was 22.5 ± 4.0 months (range 11.3–28.7 months). The main causes of explantation were cataract in the PC pIOL group (60%) and chronic endothelial cell loss in the AS pIOL group (53.8%) and IF pIOL group (56.2%). Overall, the procedure most often combined with pIOL explantation was phacoemulsification and implantation of a posterior chamber IOL (40.3%), followed by keratoplasty (9.6%). Intraoperative complications were significantly more common in the AS pIOL group than the other groups (
p
< 0.001).
Conclusions
Explantation of anterior chamber pIOLs due to severe endothelial cell loss and the proportion of keratoplasty was more common in patients with a relatively long survival time. Therefore, patients with pIOL implantation should be monitored regularly after surgery.
Juvenile Paget’s disease (JPD) is a rare autosomal recessive osteopathy. There is still a question about the most effective treatment modality in long-term prognosis. A 9-month-old boy who suffered ...from bone pain and deformities with a very high alkaline phosphatase level was diagnosed as JPD by radiographic findings. Genetic analysis showed a homozygous large deletion in
TNFRSF11B
gene encoding osteoprotegerin. Clinical improvement was observed with intravenous pamidronate therapy. However, the effect of drug reduced in time so the annual dose per kilogram body weight was increased after 2 years. Despite this increment, bone fractures developed and bone pain recurred with high-ALP levels, which suggested resistance to pamidronate. Switching to zoledronate resulted a significant improvement in bone findings radiographically and ALP level. Severe hypocalcemia requiring intravenous calcium treatment complicated the first dose of zoledronate, but not recurred thereafter. Intravenous pamidronate therapy is effective in reducing bone pain, improving bone deformities and motor development in infantile onset JPD. However, this effect can be transient. Switching to another bisphosphonate like zoledronate may provide long-term clinical and biochemical improvement as an alternative treatment in case of resistance to pamidronate therapy.
Iris is the largest genus of family Iridaceae having 50 species with 24 endemic to Turkey. Here in this study we compared morphological, anatomical and ecological characters of two varieties of Iris ...unguicularis subsp. carica (Iris unguicularis subsp. carica var. carica and Iris unguicularis subsp. carica var. syriaca) from Turkey. We reported some distinctive morphological characteristics between both of the varieties like plant size, root length and width, leaf length and width, perianth tube, falls, standard fruit and bract length, falls and standards width and structure, flower colour which are of important taxonomic values. We further investigated that both the varieties are found in different localities and the differences in morphological properties are specific to ecological conditions. Soil analysis of both varieties reveal that CO3, Ca, Mg, Fe and Mn values are more effective than the other soil factors in the distributions of these varieties.
RESUMO: Íris é o maior gênero da família Iridaceae com 50 espécies, sendo 24 endêmicas da Turquia. Neste estudo, comparamos caracteres morfológicos, anatômicos e ecológicos de duas variedades de Iris unguicularis subsp. carica (Iris unguicularis subsp. carica var. carica e Iris unguicularis subsp. carica var. syriaca) da Turquia. Relatamos algumas características morfológicas distintas entre as duas variedades, tamanho da planta, comprimento e largura da raiz, comprimento e largura da folha, diâmetro da tuba, quedas, comprimento padrão da fruta e da bráctea, quedas e padrões de largura e estrutura, cor da flor e importância taxonômica. valores. Nós investigamos ainda que ambas as variedades são encontradas em diferentes localidades e as diferenças nas propriedades morfológicas são específicas das condições ecológicas. Análises do solo de ambas as variedades revelam que os valores de CO3, Ca, Mg, Fe e Mn são mais efetivos que os demais fatores do solo nas distribuições dessas variedades.
This paper investigates the effect of idiopathic polyhydramnios on the intrapartum and postpartum characteristics of labour and early neonatal outcomes. In this study, intrapartum and early neonatal ...outcomes of 207 women with idiopathic polyhydramnios and 336 matched healthy pregnant patients were evaluated. In the case of idiopathic polyhydramnios, the active phase of labour became longer when compared to the control group (5.76 ± 3.56 h vs. 4.38 ± 2.8 h, p: 001). The risk of preterm birth (OR 5.23; 95% CI: 2.04-13.42) and caesarean section (OR 2.26; 95% CI: 1.56-3.28) was higher in women with IP. Patients with IP had a higher rate of transcient tachypnoea of the newborn (TTN), newborn resuscitation, admission to neonatal intensive care unit (NICU), ventilator requirement, newborn jaundice, newborn hypoglycaemia and structural anomalies. IP did not cause any appreciable maternal risk during the intrapartum or postpartum periods. However, neonatal morbidity and post-natal anomaly rates were higher in the case of IP.
Purpose
We aimed to identify the phenotypic variability of
IGF1R
defects in a cohort of short children with normal GH secretion gathered through the last decade.
Patients and methods
Fifty children ...(25 girls) with short stature and a basal/stimulated growth hormone (GH) over 10 ng/ml having either a low birth weight or microcephaly were enrolled. MLPA and then Sanger sequence analysis were performed to detect
IGF1R
defects. The auxological and metabolic evaluation were carried out in index cases and their first degree family members whenever available.
Results
A total of seven (14%)
IGF1R
defects were detected. Two
IGF1R
deletions and five heterozygous variants (one frameshift, four missense) were identified. Three (likely) pathogenic, one VUS and one likely benign were classified by using ACMG. All children with
IGF1R
defects had a height < − 2.5SDS, birth weight < − 1.4SDS, and head circumference < − 1.36SDS. IGF-1 ranged from − 2.44 to 2.13 SDS. One child with a 15q terminal deletion had a normal phenotype and intelligence, whereas low IQ is a finding in a case with missense variant. Two parents who carried
IGF1R
mutations had diabetes mellitus, hypertension and hyperlipidemia, one of whom also had hypergonadotropic hypogonadism.
Conclusion
We found a deletion or variant in
IGF1R
in 14% of short children. Birth weight, head circumference, intelligence, dysmorphic features, IGF-1 levels and even height are not consistent among patients. Additionally, metabolic and gonadal complications may appear during adulthood, suggesting that patients should be followed into adulthood to monitor for these late complications.
Purpose
The aim of this study was to evaluate the risk factors for clavicle fracture concurrent with brachial plexus injuries.
Methods
A retrospective study was conducted at a tertiary centre. The ...hospital records of 62,288 vaginal deliveries were evaluated retrospectively. There were 35 cases of brachial plexus injury. Of these patients, nine had brachial plexus injuries with clavicle fracture and 26 without clavicle fracture. The analysed risk factors for clavicle fracture concurrent with brachial plexus injury were gestational diabetes, labour induction and augmentation, prolonged second stage of labour, estimated foetal weight above 4000 g, birth weight above 4000 g, risky working hours, and the requirement of manoeuvres to free the impacted shoulder from behind the symphysis pubis.
Results
Labour augmentation with oxytocin increased the risk of clavicle fracture in cases of brachial plexus injury (OR 6.67; 95% CI 1.26–35.03). A birth weight higher than 4000 g also increased the risk of clavicle fracture. Risky working hours, gestational diabetes, estimated foetal weight higher than 4000 g, and requirement of shoulder dystocia manoeuvres did not increase the risk of clavicle fracture.
Conclusions
Labour augmentation and actual birth weight higher than 4000 g were identified as risk factors for clavicle fracture in cases of brachial plexus injury.
Hyperinsulinism/hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1 gene, and causes fasting as well as protein sensitive symptomatic hypoglycemia, in addition to persistently ...elevated plasma ammonia levels. First-line treatment is diazoxide, and most patients respond well to this agent, however side effects may be observed. The most frequent side effect of diazoxide is fluid retention and hypertrichosis, while hyperuricemia and hematologic side effects are observed less often. Herein, we report a case who had a heterozygous mutation of GLUD1 gene and who developed diazoxide related neutropenia 8 years after the start of treatment. On follow-up, leucopenia and mild neutropenia persisted and the treatment was changed to somatostatin analogues. However, she developed persistent severe symptomatic hypoglycemia and required diazoxide retreatment. A lower dose of diazoxide (6 mg/kg/day) successfully controlled hypoglycemia and cell counts increased even though they were not normalized. Neutropenia in current case presented after a long period of time of diazoxide use and this period is the longest defined in the literature. Long-term endocrine and hematologic follow-up of this patient up to 18 years old will also be presented.
Summary
Context The prognosis of Hashimoto's thyroiditis (HT) in children and adolescents is not well known and studies reporting long‐term outcome of the disease are scarce.
Objective To assess ...the thyroid hormone status during long‐term follow‐up and to establish the prognosis of children and adolescents with HT.
Patients One hundred and twenty‐nine patients with HT were re‐evaluated for thyroid hormone status after a mean follow‐up period of 50 months.
Results Seventy‐seven per cent of the euthyroid patients were still euthyroid, while 21·1% of these patients became hypothyroid at the time of re‐evaluation. However, 69·5% of hypothyroid patients remained hypothyroid (overt or subclinical) and 30·5% recovered.
Conclusion HT is a dynamic process. Thyroid functions can show variation during follow‐up. Therefore, thyroid function tests should be repeated periodically to detect progression to hypothyroidism in initially euthyroid patients as well as reversibility of hypothyroidism.
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