7 research outputs found
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Ultrasound-Guided Needle Insertion Device for Percutaneous Nephrolithotomy
No full textPhysicians completing surgical urological procedures in medical centers often use fluoroscopy to aid in viewing organs. While this doesn’t harm the patient due to its low radiation amount, the exposure to radiation builds over time for physicians. The need for radiation-free PCNL procedures has been explored, and several ultrasound-based solutions have been offered, but none offer the same level of imaging standards that fluoroscopy has. The purpose of this project is to develop an ultrasound-guided needle insertion device for PCNL procedures that allows physicians to see the needle in the insertion plane of view. We plan to account for needle bending by allowing the physician to refract the image +/- 15 degrees, which will prevent issues involving reinsertion. For the design of this project, we plan on first considering several ultrasound gel materials that will create a strong image contrast while also remaining contained within the device. We will consider contrast versus consistency to determine the best material. We then plan to consider several design options that will allow for clinical precision and accuracy while maintaining a natural feel to the clinician. Upon commencement of our initial research and testing, we were able to make some determinations about potential biomaterials to use as ultrasound gels. After reviewing the current prototypes and determining what changes need to be effectively made, we have also considered several design options that best meet our technical objectives
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Multimodal Neuroimaging (fMRI and fNIRS) at WPI PracticePoint
No full textChronic pain presents a complex challenge in medical science that affects a substantial portion of the population. The most common technique to analyze how chronic pain manifests in the brain is by the way of functional magnetic resonance imaging (fMRI). While this method provides reliable, insightful data, it has large downsides. In recent studies, however, there has been promising data that suggest that fNIRS may offer a unique opportunity to investigate the neural foundations of pain perception in real-time. This study focuses on analyzing cortical neural hemodynamics during resting-state using fNIRS for future collation with fMRI data and applications in chronic pain identification and research. To analyze this, a sample set of 7 participating healthy individuals over the age of 18, underwent multimodal neuroimaging utilizing both fMRI and fNIRS imaging techniques simultaneously. This data was processed in nirsLAB software using GLM analysis to derive what areas of the cortex experienced significant increases in hemoglobin. The results of this study did find spontaneous increases in hemoglobin in the 4 valid samples analyzed as would be expected with resting-state data. However, the overall consensus was that overall, the sample set was not ideal due to the substantial loss of data integrity across the 20 channels observed for each subject
International consensuses and guidelines on diagnosing and managing Coats' disease by the Academia Retina Internationalis (ARI), Asia-Pacific Vitreo-retina Society (APVRS) and the Asia-Pacific Professors of Ophthalmology (AAPPO)
No full textCoats' disease is a rare, retinal vascular disorder characterized by telangiectasias, aneurysmal dilations, and progressive exudative retinal detachment. Limited understanding of the disease warranted the need to identify controversial issues in through extensive literature search and debate discussion of the international panel of experts. Extensive literature search was done on multiple aspects of the disease-classification patterns, disease, Coats plus and Coats-like response. Other key factors included the etiology, possible genetic patterns, relationship with other vascular disorders, the role of inflammatory factors and VEGF in the pathogenesis, diagnostic features and complications. Considering the varying treatment patterns followed, imaging modalities, clinical findings, differential diagnosis, treatment options, prognostic factors, emerging concepts in management, were all covered in the search. 18 experts were included, to opine on questions spanning-- lassification, pathogenesis, diagnostic and treatment methods, prognostic controversies and newer concepts in disease management. Of the 52 questions in 7 sections, the experts arrived at a consensus for 48 (92.3%) statements (75% voted as strong agreement or agreement). Most experts agreed upon the suggested classification, diagnosis and prognosis. The controversy, however, remained in questions regarding association with other vascular disorders, treatment of stage 3&4, possible benefits of newer anti-VEGF's and the role of artificial intelligence. These debates reflect the rarity of the condition, complex pathophysiology, and the challenges of treating a progressive blinding disease primarily affecting children. Hence, further studies are warranted, especially in areas that have not reached a consensus.
Copyright © 2025 The Author(s). Published by Elsevier Inc. All rights reserved
Adalimumab Monotherapy or Combination Therapy With Methotrexate in Paediatric Uveitis: Data From the AIDA Network Uveitis Registry
No full textBackground: The study objective was to compare the effectiveness of adalimumab (ADA) in monotherapy and in combination with methotrexate (MTX) for paediatric noninfectious uveitis (NIU). Methods: Registry-based observational study. Children receiving ADA for active uveitis were divided into the ADA monotherapy group (group 1) and the ADA plus MTX combination group (group 2). Results: Eighty four children were enrolled (146 eyes): 22 in group 1 (26.2%) and 62 in group 2 (73.8%). ADA effectiveness was complete in 48 children (57.1%), partial in 23 (27.4%) and absent in 4 (5.3%), without any differences across the groups (p = 0.89). Fewer relapses per 100 PY occurred after ADA treatment both in group 1 (280.0 vs. 23.0, p = 0.005) and in group 2 (297.9 vs. 86.0, p < 0.001). The final BCVA was similar between groups 1 and 2 [median 1.0 (IQR 0.3) and 1.0 (IQR 0.3), respectively, p = 0.55]. A statistically significant steroid-sparing effect was observed in the entire cohort and in group 2 at the 6-month (p = 0.01 and p = 0.01), 12-month (p = 0.02 and p = 0.02), and last follow-up (p = 0.045 and p = 0.045). The estimated ADA retention rate was 97.1% at 12 months, 87.7% at 24 months, and 82.6% at 36 months, without a statistically significant difference among the groups (p = 0.77). Conclusions: ADA monotherapy could be equally effective as its combination with MTX in both preventing uveitis relapses and preserving visual acuity in paediatric NIU, with comparable retention rates over 36 months of treatment. The steroid-sparing effect of ADA monotherapy warrants further extensive evaluation to define its optimal placement in the therapeutic strategy for paediatric NIU. © 2025 The Author(s). Clinical & Experimental Ophthalmology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Ophthalmologists
Parental Karyotyping in Recurrent pregnancy loss in tertiary care hospital
No full textOriginal Research Paper
Parental Karyotyping in Recurrent pregnancy loss in tertiary care hospital
Authors:
Dr. M. Pravallika, 2Dr. N. Chandraprabha, 3Dr. M.Swarnalatha,4Dr. R. Sujatha
Andhra medical College Visakhapatnam
Rangaraya medical College Kakinada
Andhra Medical College Visakhapatnam
Rangaraya medical College Kakinada
Corresponding Author: Dr. R. Sujatha, Rangaraya medical College Kakinada
Article Received: 10-08-2022 Revised: 31-08-2022 Accepted: 21-09-2022
ABSTRACT:
Introduction: Recurrent pregnancy loss is a devastating outcome for patients and their clinicians and it continues to be clinical dilemma. Aims and objectives: To know the role of chromosomal abnormalities and cytogenetic evaluation in the couples with RPL and to determine the prevalence and types of chromosomal anomalies in couples with RPL. Materials and methods: The couples with recurrent first trimester abortions visiting the Department of OBG King George Hospital, Vishakhapatnam. It is Hospital based observational study for one year from December 2020 to November 2021. In this study detailed clinical evaluation, laboratory investigations and cytogenetic analysis were done. Inclusion criteria: Couples with prior history of two or more abortions and age between 18 -35 years. Exclusion criteria Couples with recurrent second and third trimester loses, congenital female genital tract abnormalities and couples who have not given consent. Methodology: At enrollment, after informed consent is taken, information on demographic characteristics, any medical history , family history and clinical data are collected along with a three generation pedigree and recorded as per proforma .All couples are subjected to basic laboratory investigations.After basic clinical and laboratory work up , couples are subjected to cytogenetic analysis.A Peripheral blood sample of about 3 ml is collected and lymphocytes are cultured in presence of a mitogen.After an optimum time of culture mitotic inhibitor colchicine is added to the culture and mitosis is arrested in metaphase as colchicine block the formation of spindle fibres. Peripheral blood lymphocyte cultures are set up according to modified method of Moorhead et al for detection of karyotyping abnormalities using G banding. Results: Primary RPL is more common than secondary RPL. The majority belonging to age group 21 to 25 and the majority of males belonging to the age group of 26 to 30 yrs. 42.9% of the couples had a total of 3 abortions. Most common chromosomal anomaly detected were Balanced reciprocal translocations detected in 3 cases(42.8%) and 2 were in females and 1 was in male .Robertsonian translocations were detected in 2 cases(28.57%) , one in male and one in female. Chromosomal inversion was detected in one female (14.2%) and Mosaicism was in 1 female (14.2%). Conclusion: Recurrent pregnancy loss is a challenging problem for Obstetricians. Cytogenetic analysis is an essential investigation for couples, in whom genetic counseling and proper management can be planned accurately.
Key words: recurrent pregnancy loss, cytogenic, karyotype
INTRODUCTION:
Recurrent pregnancy loss is a devastating outcome for patients and their clinicians and it continues to be clinical dilemma. According to ACOG early pregnancy recurrent pregnancy loss (RPL) is a distinct disorder defined by two or more pregnancy losses confirmed by ultrasound or histopathology of products of conception.[1]. According to RCOG, Recurrent miscarriage is defined as the loss of three or more consecutive pregnancies, affects 1% of couples trying to conceive. It has been estimated that 1–2% of second-trimester pregnancies miscarry before 24 weeks of gestation.[2] The European Society for Human Reproduction and Embryology(ESHRE) special interest group for early pregnancy defines recurrent miscarriage as three early consecutive losses or two late pregnancy losses.[3] The current definition does not include women with ectopic, biochemical pregnancies and pregnancy of uncertain location .Each of these conditions is known to be associated with poor obstetric outcome and can be recurrent. The chromosomal abnormalities can be divided in two basic groups: numerical and structural abnormalities. These abnormalities can involve one or more autosomal chromosomes, sexual chromosomes and both simultaneously [3]. They are most commonly found as balanced rearrangements, i.e. abnormalities cause no clinical symptoms in carriers but possibly induce the production of abnormal reproductive cells containing abnormal amounts of genetic material[2].
Apart from the genetic reasons many other reasons contribute to the recurrent abortions and these include the uterine anatomical factors, hormonal factors, immunological and non-immunological mechanisms. Even environmental factors, stress and occupational factors do seem to be related in few cases though there is no strong evidence .Apart from these known etiologies, recurrent pregnancy losses were found to be due to unknown reasons in majority of the patient The risk of miscarriage increases with increasing maternal age and the subsequent pregnancies and the loss of a pregnancy at any stage is a devastating experience to the woman as the chances of a next successful pregnancy outcome decrease. Hence early diagnosis and treatment should be initiated to provide a healthy baby to the mother.
Primary vs Secondary RPL:
Primary recurrent miscarriage: It is defined as two or more losses with no pregnancy progressing beyond 20 weeks.
Secondary recurrent miscarriages: It is defined as two or more losses after a pregnancy that has progressed beyond 20 weeks which might have resulted in a live or still birth.
Epidemiology
Based on the incidence of spontaneous pregnancy loss , the incidence of recurrent pregnancy loss is approximately 1 in 300 pregnancies[6] .However epidemiological studies have revealed that about 1 -5 % of couples attempting childbirth. Although a clear data is not published , the best available data suggest that risk of miscarriage in subsequent pregnancy after 2 losses is 30 % compared with 33 % after 3 loses. Among the patients without a history of live birth .Hence , it strongly suggests a role of evaluation after just 2 miscarriages in patients with no prior live births .Chromosomal anomalies of parents with recurrent pregnancy losses are observed in about 2 % to 8% of the couples.
Indian scenario:
Among the studies done in India, the prevalence of chromosomal abnormalities varied between 7 and 18%.(8)Genetic causes Approximately 2 to 4% of RPL is associated with a parental chromosomal abnormalitie They include: balanced structural chromosomal rearrangement. Most commonly balanced reciprocal or robertsonian translocations. 2) Chromosomal inversions 3) Mosaicisms.4) Inversions. Types of inversions 1.Peri-centric 2.Para-centric 5)Mendelian disorders.6)Sex chromosome aneuploidies.7) Single nucleotide variants 8) Epigenetic aberrations Under current recommendations, the clinical management of RPL couples includes parental karyotyping as first line genetic test. Karyotyping of both the parents is included in a standard clinical evaluation of the couples with recurrent pregnancy loss. According to Christiansen et al. there is two- to sevenfold increased prevalence of recurrent miscarriages among first-degree relatives compared to the background population[5], and further studies showed that overall frequency of miscarriage among the siblings of patients with idiopathic RPL is approximately doubled compared to that in the general population[6]. Consanguineous marriages also significantly increase the incidence of inherited recessive disorders and cause some reproductive and developmental health problems and also promote recurrent loss of pregnancies. Genetic and genomic studies of RPL potentially have the benefit of understanding the mechanism underlying the cause of RPL, producing a risk estimation for the couple in the future and may suggest a treatment.
AIMS AND OBJECTIVES:
To know the role of chromosomal abnormalities and cytogenetic evaluation in the couples with Recurrent pregnancy loses. 2) To determine the prevalence and types of chromosomal anomalies in couples with recurrent miscarriages.
MATERIAL AND METHODS:
Study population: The couples with recurrent first trimester abortions visiting the Department of Obstetrics and Gynaecology of King George Hospital , Vishakhapatnam. This study is Hospital based observational study done for one year December 2020 to November 2021. The study was done in 2 parts. In first 10 months Couples were recruited from OBG department and a detailed clinical evaluation, laboratory investigations and cytogenetic analysis were done .in last two months Data analysis was done. Sample size: 70
Inclusion criteria:
1. Couples with prior history of two or more abortions. 2. Aged between18 -35 years, after obtaining informed consent.
Exclusion criteria:
1.Couples with recurrent second and third trimester loses
2.Congenital female genital tract abnormalities.
3.Couples who have not given consent.
METHODOLOGY:
At enrollment, after informed consent is taken, information on demographic characteristics, any medical history , family history and clinical data are collected along with a three generation pedigree and recorded as per proforma .All the couples are then subjected to basic laboratory investigations , which includes a Complete blood picture , HIV , HbSAg, VDRL , HCV , Blood grouping and typing , Thyroid profile , Fasting and Post prandial blood sugars ,Bleeding and Clotting time. Apart from the routine investigations Semen analysis is done in male partners and Ultrasonography of the pelvis , TORCH and APLA profile are done in the female partners .After basic clinical and laboratory work up , couples are subjected to cytogenetic analysis .in this Peripheral blood sample of about 3 ml is collected and lymphocytes are cultured in the presence of a mitogen.After an optimum time of culture (i.e. 72 hrs for adult sample) , mitotic inhibitor colchicine is added to the culture and mitosis is arrested in metaphase as colchicine block the formation of spindle fibres.Peripheral blood lymphocyte cultures are set up according to modified method of Moorhead et al (1960) for detection of karyotyping abnormalities using G banding.G banding is carried out by modified method of Seabright (1971) A total of 25 intact spread metaphases are screened for each individual with microscope and metaphases will be karyotyped using Cyto vision software.International system for human chromosome nomenclature (ISCN 2016) is followed for the analysis and reporting of the karyotype.Data analysis: Case report forms (Data sheets ) will be used for data collection and it will be tabulated in Microsoft excel. Data analysis will be done using SPS.
RESULTS:
Table 1.Types of RPLS with respect to female age groups
AGE GROUP
Total
18-20
21-25
26-30
31-35
Primary VS
secondary
Primary
Count
3
28
23
4
58
%
100.0%
90.3%
74.2%
80.0%
82.9%
Secondary
Count
0
3
8
1
12
%
0.0%
9.7%
25.8%
20.0%
17.1%
Total
Count
3
31
31
5
70
%
100.0%
100.0%
100.0%
100.0%
100.0%
CHI SQUARE = 3.504, P VALUE = 0.32
In the present study, majority of the couples ( n=58 , 82.8%) had a non consanguineous marriage .It was followed by third degree consanguineous marriage (n=8 , 11.5%) and second degree consanguineous marriage ( n=4, 5.7%).
figure 2: Pie diagram showing the distribution based on degree of consanguinity
Table 2: Types of recurrent pregnancy loss
Frequency
Percent
Primary
58
82.9
Secondary
12
17.1
Total
70
100.0
Table 3: No of Abortions
No. of abortions
Frequency
Percent
2
21
30.0
3
30
42.9
4
13
18.6
5
6
8.6
Total
70
100.0
Table 4 : Types of Chromosomal Anamalies
FEMALE
MALE
BALANCED RECIPROCAL TRANSLOCATION
2
1
BALANCED ROBERTSONIAN
1
1
INVERSION
1
0
NUMERICAL ABNORMALITIES
1
0
TOTAL
5
2
Balanced reciprocal translocations are the most common chromosomal aberration recorded in the
Present study ( n=3 ,42.4%). 2 were observed in females and 1 was in male partner. It was followed by balanced robertsonian translocation, which are observed in 2 cases (n=2,28.5%).1 was observed in female partner and 1 in male partner. Inversion and numerical mosaicism were observed in one case each(14.2% +14.2%), both of them are female carriers. Female to male carrier ratio in our study is 2.5 :1
Table 5. Abnormal Karyotype With Respect to Age and Sex
Case
Type of chromosomal
Anomaly
Karyotype
Age
Sex
No of abortions
1
Balanced reciprocal
Translocation
46,XX, t(3;6),(q29;q14)
22yrs
Female
3
2
Balanced reciprocal
Translocation
46,XY,t(6;11),(q14,p15)
28yrs
Male
3
3
Balanced reciprocal
Translocation
46,XX,t(4:6)(q35;q22)
24 yrs
Female
2
4
Robertsonian
Translocation
45,XX,rob(13;22)
(q10;q10)
26yrs
Female
4
5
Robertsonian
Translocation
45,XY,rob(14;22)
(q10,q10)
29yrs
Male
4
6
Inversion
46,XX,inv(9),(p12q21)
24 yrs
Female
3
7
Numerical mosaicism
mos46XX[22]/45X[3]
32yrs
Female
3
Female
Male
Hypothyroid
5
2
Hyperthyroid
3
2
Diabetes
3
3
Tuberculosis
1
2
Hiv
1
1
bronchial asthma
1
2
anemia (sickle cell trait)
1
0
heart disease
1
1
Table 6: Associated Medical Condition With Respect to Sex.
46,XX,t(3;6),(q29;q14). 46,XY,T(6;11),(Q14,P15)
46,XX,t(4;6)(q35;q22). 45,XX,rob(13;22),(q10,q10)
45,XY,ROB(14;22)(Q10;Q10)
46,XX,inv(9),(p12q21) mos46XX[22]/45X[3]
DISCUSSSION:
Incidence of RPL is variable all around the world, and is dependent on various factors. Various studies regarding the associated the association of genetic component have been done.
AGE DISTRIBUTION:
In the present study, mean age of the female partners is 25.9 yrs . Majority of the cases in the study belonged to the age group 21 -25 yrs & 26-30 yrs .Mean age of the male partners in the study is 28.87 yrs with majority of the cases between the ages 26 and 30 yrs.
Table-8 Comparison of Mean Ages of Males and Females in Various Studies
Study
Female mean age
Male mean age
Present study
25.9yrs
28.87 yrs
Neha Sudhir et al
27.9yrs
32.4 yrs
Rim Frikha et al
28 yrs
33 yrs
Wiem Ayed et al
31.9yrs
36.6yrs
Reza Alibakshi et al
29.33 yrs
33.74yrs
Vishali Kalotra et al
31.1 yrs
33.9 yrs
Gender Distribution of Abnormal Karyotype
In the present study, out of the 7 cases with abnormal karyotype 5 were detected in females and 2 were detected in males. female predominance is observed with male to female ratio being 1:2.5.
Table -9 Comparison of Male to Female Carrier Ratio
Study
Male carriers
Female
carriers
Ratio
Present study
2
5
1 : 2.5
Frenny J Sheth et al
49
121
1 :2.1
Vishali Kalotra et al
7
10
1: 1.43
Mau et al
18
9
2:1
Pritti K Priya
3
2
1.5:1
Comparison of chromosomal anomalies in our study to previous studies: In the present study
TYPE OF ABERRATION
CASES
%
Balanced reciprocal translocations
3
42.8%
Robertsonian translocation
2
28.57%
Inversion
1
14.2%
Mosaicism
1
14.2%
In the present study the incidence of chromosomal anomalies is 10 % of the couples who were showing Recurrent preganacy loss and 5% of the individuals of the affected couples.
Chromosomal anomalies in various studies:
Ashoke K paul etal7 (2018)
Total no of couples taken in study were 172.
Out of which 17 were found to have chromosomal anomalies.
Balanced reciprocal
8
47%
Robertsonian
2
11.7%
Inversion
5
29.4%
Aneuploidy
1
5.8%
Mosaic
1
5.8%
Zouhair Elkarhat et al [51](2019)
Total no. of couples taken in the study were 627. Karyotype analysis showed abnormalities in 69 %.
Inversion
27
39.1%
Reciprocal translocation
17
24.6%
Robertsonian translocation
9
13%
Aneuploidy
1
1.4%
Mosaicism
4
5.7%
Polymorphic variants
8
11.5%
Miscellaneous
3
4.3%
IN THE PRESENT STUDY:
In our study 7 individuals had a chromosomal abnormality , out of which 3 (42.8%) were carriers of balanced reciprocal translocation , 2 (28.5%) were carriers of Robertsonian translocations , 1(14.2%) was a carrier of inversion and 1 (14.2%) was a numerical mosaic . These results are comparable to Asoke K Pal et al[7] , in which 4.94 % of the individuals and 88% of the couples with RPL had chromosomal anomalies. Several studies reported different types of structural and numerical chromosomal anomalies in RPL and the percentage of affected couples varied from 4 to 9% .
Table-17: Comparison of Incidence of Chromosomal Anomalies in Different Studies on Recurrent Pregnancy Loss.
Study
No. of couples
Affected
couples
%
Present study
70
7
10%
Asoke K pal et al(2017)
172
17
9.88%
Tusi et al
512
51
9.96%
Nazmy et al (2008)
376
34
9.04%
Pal et al (2009)
56
5
8.92%
Gonclaves et al (2014)
151
11
7.28%
Balanced reciprocal translocations
They are the most common structural chromosomal aberrations associated with recurrent loss of pregnancy in many studies.in the Present Study, balanced reciprocal translocations were recorded in 3 cases, accounting for 42.8% of the total chromosomal anomalies .It is comparable to the above mentioned studies
Robertsonian translocations
Some studies show a higher frequency of Robertsonian translocations. In the study conducted by Pal S et al[12] , Robertsonian translocations were observed in 20% of the cases with chromosoamal anomalies .In the study conducted by Ashalatha et al [13] Robertsonian translocations were observed in 27.27% of the cases with chromosomal anomalies. They are comparable to the present study. In the present study, Robertsonian translocation was identifies in two case out of the seven cases with chromosomal anomalies. It accounts for 28.57% of the cases with chromosomal anomalies,1.4% of the individuals and 2.8% of the couples with recurrent pr
