Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal ...clinical findings of patients with Sotos syndrome. Sixteen patients suspected to have Sotos syndrome with clinical findings were examined retrospectively, ranging in ages between 3 and 23. In our file screening, we screened the FISH results of all 16 patients, but not all patients had NSD1 gene analysis results. We collected NSD1 gene analysis results, if there were any. The parameters that we investigated for these patients are birth weight, birth length, Apgar score at the 5th minute, dysmorphological face appearance, bone age, seizure, learning disability, feeding difficulties, surgical operation, and other accompanying abnormalities (brain MRI, abnormal echocardiographic findings, chronic otitis media, etc.). The anamnesis, clinical examination findings, and genetic reports of the patients were examined. For this, the hospital registration system was used. Breech presentation, Apgar score in the 5th minute of between 4 and 7, atrial septal defect at echocardiography, and consanguineous marriage rate were detected to be increased in individuals with Sotos syndrome compared to the normal population. When compared to the general population, delayed psychomotor development was determined. Macrocephaly, increased bone age, chronic otitis media frequency, and hernia operation frequency were determined to see if all patients were consistent with the literature. As a result of NSD1 gene sequencing analyses (NSD1 gene analysis was performed in 6 patients and a mutation was detected in 3 of them), three were found to have NSD1 gene mutation (one of them was novel). A novel deletion-type mutation that was not previously reported in the literature in the 19th exon of the NSD1 gene was determined. Xiphoidal protrusion was detected on this patient that had the novel mutation, and this situation has not been reported in the literature previously. If a patient has rapid growth, difficulty in learning, macrocephaly, speech delay, and timid personality, Sotos syndrome can be considered at the pre-diagnosis stage.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
ABSTRACTWe aimed to perform functional analysis of miR-145-5p in prostate cancer (PCa) cells and to identify targets of miR-145-5p for understanding its role in PCa pathogenesis. PC3, DU145, LNCaP ...PCa, and PNT1a nontumorigenic prostate cell lines were utilized for functional analysis of miR-145-5p. Its overexpression caused inhibition of proliferation through apoptosis and reduced migration in PCa cells. SOX2 expression was significantly decreased in both mRNA and protein level in miR-145-5p-overexpressed PCa cells. We proposed that miR-145-5p, being an important regulator of SOX2, carries a crucial role in PCa tumorigenesis.
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DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Introduction:
Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is ...“Poretti-Boltshauser Syndrome; PTBHS” (OMIM #615960). Homozygous or compound heterozygous mutations in the LAMA1 gene cause this disease.
Case presentation:
7 years old twin siblings consulted to the medical genetics department because of walking problems and cerebellar examination findings.
Management and Outcome:
Clinical and radiological findings of the patient suggested a syndrome with recessive inheritance. Whole exome sequencing (WES) test was performed for definitive diagnosis. As a result of the patient’s WES analysis, a homozygous mutation was detected in the LAMA1 gene.
Discussion:
When determining the inheritance pattern of genetic diseases, if parents have consanquinity, this situation leads us to recessive inheritance diseases. Even if we are not consanquinity, but they say the same village, it is necessary to pay attention to the diseases of the recessive group. Whole exome sequencing analysis results in large amount of data generation. A good clinical evaluation is required to detect the mutation as a result of large data. To understand what we have found, we need to know what we are looking for.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK, VSZLJ
Introduction: Melanoma is a cancer arising from the malignant transformation of melanocytes. It is mostly seen in the skin, eyes, mucosal membranes, and meninges. Melanoma is one of the fastest ...rising of all cancers in the world.Methods: We retrospectively examined the medical records of adult patients who were diagnosed with melanoma between January 2005 and December 2013 according to the Hospital-Based Cancer Registry (HBCR) of Hacettepe University Oncology Hospital.Results: A total of 338 patients 193 (57.1%) men and 145 (42.9%) women were included in the study. The male to female ratio was 1.3/1. The mean age of patients was 55.2±15.2 years (minimum-maximum: 16-87 years). The rate of male patients was higher in patients with cutaneous and uveal melanoma (respectively, 56.8% and 58.6%), whereas the rate of female patients was higher in patients with mucosal melanoma (female: 55.6% and male: 44.4%; respectively, p=0.746 and p=0.518). The median follow-up time was estimated to be 27.7 months (1-103 months). During follow-up period, 127 (37.6%) patients died, and 16 (4.7%) patients were lost to follow-up. The median overall survival time was 76.3 months. The 5-year survival rate was 53%. When all patients were evaluated according to melanoma subtypes, patients with melanoma of unknown primary origin had the lowest median survival time (6.4 months).Conclusions: It is necessary to increase the awareness of people about melanoma and to make physicians more sensitive about skin examination in order to detect cutaneous melanomas in the early stages.
Giriş: Melanom, normal melanositlerin malign transformasyonu ile oluşan bir kanserdir. En fazla ciltte olmak üzere gözde, mukozalarda ve meninkslerde görülmektedir. Melanom tüm kanserler arasında sıklığı en fazla artan kanser türüdür.Yöntem: Hacettepe Üniversitesi Onkoloji Hastanesi'nin, Hastaneye Dayalı Kanser Kayıt Merkezine göre Ocak 2005- Aralık 2013 tarihleri arasında melanom tanısı alan yetişkin hastaların tıbbi kayıtlarını retrospektif olarak inceledik.Bulgular: Çalışmaya 193’ü (%57,1) erkek ve 145’i (%42,9) kadın olmak üzere toplam 338 hasta alındı. Çalışmaya alınan hastaların, erkek/ kadın oranı 1.3/1 olarak bulundu. Hastaların yaş ortalaması 55.2±15.2 idi (minimum ve maksimum: 16-87 yaş). Cilt ve uveal melanomlu hastalarda erkek cinsiyet daha fazla sıklıkta iken (%56,8 ve %58,6), mukozal melanomlu hastalar arasında kadın cinsiyetin daha baskın olduğu bulundu (kadın: %55,6, erkek %44,4; sırasıyla p=0.746ve p=0.518). Çalışmaya alınan hastalarda ortanca izlem süresi 27,7 ay (1-103 ay) olarak saptandı. Bu süre içinde hastaların 127’si (%37,6) kaybedildi, 16 hasta (%4,7) ise izlem-dışı kaldı. Ortanca genel sağkalım süresi tüm melanomlu hastalar için 76,3 ay iken, 5 yıllık sağkalım süresi %53 olarak bulundu. Melanom tipine göre ayrı ayrı hastalar değerlendirildiğinde, kökeni bilinmeyen melanomlu olgularda ortanca sağkalım en kötü idi (6,4 ay).Sonuç: Kişilerin melanom konusunda farkındalıklarının artırılması ve hekimlerin cilt muayenesi konusunda daha duyarlı hale getirilmesi, kütanöz melanomların erken evrelerde tespit edilebilmesi için gereklidir.
Background
The human lens develops age-related cataracts (ARCs) because of the complicated effects of aging and stressful conditions. Under conditions involving oxidative stress, cells form stress ...granules (SGs).
TDRD7
has been identified as an RNA granule component and an important component of SGs.
TDRD7
plays a role in the post-transcriptional expression of genes, such as the crystallin gene
CRYBB3
. Therefore, the present study investigated
TDRD7
and
CRYBB3
mRNA expressions in relation to age-related cortico-nuclear cataracts.
Methods
Quantitative real-time PCR was used to determine the expression levels of
TDRD7
and
CRYBB3
in 52 patients with ARC and 52 healthy controls. Anterior lens capsules and peripheral blood samples from patients with ARC were included in the patient group, and peripheral blood samples from healthy subjects and human lens epithelial cells (HLE-B3) were included in the control group. Gene expression levels in the different age groups were compared. Correlation analysis was used to assess the gene expression levels and age.
Results
The expression of
TDRD7
and
CRYBB3
was significantly up-regulated (
P
< 0.0001) in anterior lens capsules compared to that in HLE-B3 cells. Similarly, the expression of
TDRD7
(
P
= 0.0004) and
CRYBB3
(
P
< 0.0001) was higher in the peripheral blood samples of patients with ARC than in those of healthy subjects. Significant upregulation (
P
< 0.05) was observed in the 71–81-year age group of patients. No correlation was found between gene expression levels and age.
Conclusion
Significantly higher expression levels of
TDRD7
and
CRYBB3
in patients with ARC than in controls suggest that
TDRD7
and
CRYBB3
are associated with the development of age-related cortico-nuclear cataracts and the aging process under chronic stress.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
To evaluate the incidence, clinicopathological characteristics, treatment outcomes, prognostic factors, and survival of gastric cancer patients with bone metastases.
Of 4,617 gastric cancer patients ...who were treated between 2001 and 2013, 176 patients with bone metastases were analyzed.
The incidence of bone metastasis was 3.8%. The most common histopathological subtype was adenocarcinoma (79%) with poor differentiation (60.8%). The median interval from the diagnosis to bone metastasis was 11 months. The median survival time after bone metastasis was 5.4 months. Factors that were associated with longer median survival times included the following: isolated bone metastasis (P=0.004), well-differentiated tumors (P=0.002), palliative chemotherapy (P=0.003), zoledronic acid treatment (P<0.001), no smoking history (P=0.007), and no metastatic gastric cancer at the time of diagnosis (P=0.01). On the other hand, high levels of lactate dehydrogenase (LDH) (hazard ratio HR: 1.86; P=0.015), carcinoembryonic antigen (CEA) (HR: 2.04; P=0.002), and carbohydrate antigen (CA) 19-9 (HR: 2.94; P<0.001) were associated with shorter survival times. In multivariate analysis, receiving zoledronic acid (P<0.001) and performance status (P=0.013) were independent prognostic factors.
Smoking history, poor performance status, poorly differentiated adenocarcinoma, and high levels of LDH, CEA, and CA 19-9 were shown to be poor prognostic factors, while receiving chemotherapy and zoledronic acid were associated with prolonged survival in gastric cancer patients with bone metastases.
Background
Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in ...childhood and/or progressive cognitive retardation, peripheral neuropathy, pseudobulbar symptoms, and increased reflexes in the upper limbs. We describe the clinical, laboratory, and radiological presentation of SPG11 through a report of a case and compare with previously reported
SPG11
cases in the literature.
Case presentation
This case presents a homozygous variant in the
SPG11
gene (NM_025137.4): c.1699C>T;p.(Gln567*).
Conclusion
The diagnosis was made based on molecular findings, thinning of corpus callosum (TCC) and in most cases, periventricular white matter abnormalities are detected in brain MRI. Therefore, the clinical and radiological findings are supporting the diagnosis. However, it should not be forgotten that TCC is not peculiar to SPG11.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
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