This document discusses lens anatomy and development, as well as congenital cataracts. It notes that the lens develops from surface ectoderm, not neuroectoderm, and that crystallins make up 90% of lens proteins. Congenital cataracts can be classified based on morphology, laterality, progression, and genetic or syndromic associations. Evaluation of a congenital cataract case includes family history, examination of acuity and ocular structures, laboratory tests, and potentially genetic testing. Treatment involves surgery, with timing depending on density and progression of the cataract.
Case presentation-congenital & developmental cataractSivarathana
this case presentation is about congenital & developmental cataract, which is seen by me in our routine camp.and in this discussion many of things were dealt only theoretically not practically the case was seen in a camp as well.
Purpose: We report a rare case of a 2 - year-old child with ectopia lentis and potential Marfan syndrome (MFS) and discuss her management.
Methods: A 2 - year - old female with no signifi cant past medical history was brought in by her mother after complaints that the child has recently been holding everything close to her eyes while simultaneously shifting her head down. Her mother reported no history of pain or trauma. The child’s family history was negative for ectopia lentis or MFS.
Congenital Glaucoma is one of the most common causes of irreversible childhood blindness. This presentation covers this topic in detail that can aid physicians in effective patient care.
PS: The slides in the preview look skewed, download the presentation to view the font used in Office 2012 and upwards.
Bilateral lens capsule rupture in a patient with previously undiagnosed alpor...Riyad Banayot
Ophthalmologists may be the first to consider the diagnosis of Alport’s Syndrome based on lens changes. Uncontrolled Blood pressure can delay surgery during which time IOP should be monitored closely. Results of lensectomies with foldable IOL implantation are successful. To our knowledge, this is the second report of a case of bilateral lens capsule rupture in a patient with previously undiagnosed Alport’s Syndrome.
Case presentation-congenital & developmental cataractSivarathana
this case presentation is about congenital & developmental cataract, which is seen by me in our routine camp.and in this discussion many of things were dealt only theoretically not practically the case was seen in a camp as well.
Purpose: We report a rare case of a 2 - year-old child with ectopia lentis and potential Marfan syndrome (MFS) and discuss her management.
Methods: A 2 - year - old female with no signifi cant past medical history was brought in by her mother after complaints that the child has recently been holding everything close to her eyes while simultaneously shifting her head down. Her mother reported no history of pain or trauma. The child’s family history was negative for ectopia lentis or MFS.
Congenital Glaucoma is one of the most common causes of irreversible childhood blindness. This presentation covers this topic in detail that can aid physicians in effective patient care.
PS: The slides in the preview look skewed, download the presentation to view the font used in Office 2012 and upwards.
Bilateral lens capsule rupture in a patient with previously undiagnosed alpor...Riyad Banayot
Ophthalmologists may be the first to consider the diagnosis of Alport’s Syndrome based on lens changes. Uncontrolled Blood pressure can delay surgery during which time IOP should be monitored closely. Results of lensectomies with foldable IOL implantation are successful. To our knowledge, this is the second report of a case of bilateral lens capsule rupture in a patient with previously undiagnosed Alport’s Syndrome.
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
4. Lens fibers
Long thin transparent cells firmly placed “laminae”
Bulk of lens
Linked by “gap junction”
No organelle and no nucleus
5. Lens fibers
Central part oldest fibers
Primary lens fibers posterior epithelium in embryogenesis
Nucleus of lens
Secondary lens fibers germinative cells in equatorial regions
Lens cortex, throughout life
Embryonic
Fetal
Infantile
Adult
Cortex
6.
7. Crystallins
Water soluble proteins, 90% of proteins in lens and cornea
50% familial NS cataract mutation in crystallin genes
RI of lens (refractive proteins )
δ seen in avian and reptile lens
Type Percentage
α 40%
β 35%
γ 25%
8. α Crystallin
“Chaperone” like property – esp C terminal
Px the precipitation of denatured protein and ↑ cell
tolerance and prevent apoptosis.
2 subunits
Similar to “sHSPs” evolved from gene duplication and
divergence allowing adaptation to novel functions.
αA subunit ~ AD and AR cataract
αB subunit – precipitation of protein under stress, myopathy
9.
10. CRYAB gene
αβ crystallin gene product also expressed in muscles
Spectrum of condition ranging from isolated cataract to
mild cataract with myopathy.
11. Gap junction (GJ) proteins
Connexins 46 (GJA3) and Connexin 50 (GJA8): “functional
hemi channels”
Nutrition and IC communication in avascular lens
microcirculation
Mutation AD Nuclear cataract
CX46 usually with “microcornea” association.
12.
13.
14. Lens Membrane proteins
AQPO: members of “aquaporin” family
“major intrinsic protein” (MIP)
Lamellar and Polymorphic Cx
AD inherited
LIM2: Lens membrane junction protein
adhesive function of lens fibers and
transparency : “Presenile cataract”
AR inherited
(5%)
15.
16. Other lens membrane proteins
EPHA2 : membrane bound protein TK
AD post polar cataract
DNMBP : protein bind tight junction protein 1
AR cataract + pupil anomalies, strabismus
and nystagmus
17. Beaded Filament proteins (BFP)
Intermediate Filaments (IF) unique to lens fibers
development and differentiation.
2 types
not seen in anterior Epi cells: “nuclear/lamellar/sutural” Cx
BFSP1 ( filensin)
BFSP2 (phakinin)
(combine with α crystallin to form beaded structures)
18. Growth and TF in lens
HSF4 : “heat shock protein” regulators esp αβ crystallin
: needed in high temp and increased stress
: mutation cataract
2 types
AD : early childhood (Lamellar)
AR: Congenital Cx (Nuclear)
19. Lens Patellar Fossa (Hyaloid fossa)
“Saucer depression” in anterior surface of vitreous body
If dislocated causes 2◦ cataract. Ex: WMS, MS
20. Congenital cataract
Cataract Opacification of lens and disruption of micro
architecture.
Based on age
Incidence 1-15/10000 birth
20000-40000 birth/year
“treatable blindness”
Type Age
Congenital At birth
Infantile <1 yr
Juvenile 1st decade
Pre-senile <45 yrs
Senile / Age related >45 yrs
21. Congenital cataract
Static bad
Progressive good
Syndromic
(15%)
Non syndromic
Isolated anomaly
(70%)
with other ocular
features (complex) (15%)
Unilateral (isolated
and sporadic)
Bilateral (inherited and
associated conditions )
Mutation detected and
AD is most common
Other systemic features
23. Causes of CC
1/3rd sporadic, ~50% CC are due to mutations in gene coding for
lens structure.
IUI- rubella(MCC), TORCH, EBV, Influenza, Syphilis
Irradiation
Medication induced
Trauma
Genetic / Metabolic causes
24. NS B/L Cong Cat : 1/3rd genetic mutations
: ~ 50% crystalline genes
: ~ 25% connexins
rest are genes associated with structural proteins and TF
25. Morphological classification by
Merin
Polar cataract Anterior, Posterior, Bipolar
Posterior sub capsular cataract (PSC) steroid use
Zonular cataract Nuclear and Cortical
Merin S, Crawford JS. The etiology of congenital cataracts. A survey of 386 cases. Can J Ophthal 1971
Embryonic Fetal
26.
27.
28. Pulverulent (dusty) and Dense
Sutural (Stellate) : sutural area of fetal nucleus
Cerulean (Blue dot): small blue opacities in nucleus and
cortex
Capsular (Membranous) : resorbtion of lens proteins
Merin S, Crawford JS. The etiology of congenital cataracts. A survey of 386 cases. Can J Ophthal 1971
29. Genetics in Cong cataract
Esp in bilateral cataract, ~115 genes, 90% detection rate
AD is most common
Mainly with lens structural proteins ( crystallins )
Why ? testing needed etiology
inheritance
recurrence risk
other system association
38. Condition Trait Features
Hyper ferritenemia cataract syndrome AD Raised ferritin
Warburg micro syndrome (1/2/3) AR Microcephaly, hypogonadism, DD, ID
Martsolf syndrome AR Less severe form WMS
Hallerman steriff syndrome AR Short stature, hypotrichosis, dental
Rothmund Thomson syndrome AR Poikiloderma, radial defect
SLOS AR Dysmorphism, limb, DD, ID, genital
Lathosterolosis AR Dysmorphism, limb, DD, ID, genital
39. Condition Trait Features
Norrie disease XLR HL, ID, DD, facial dysmorphism
Nance Hooran syndrome XLD Dental anomalies, dysmorphism, ID
Lowe syndrome XL Hypotonia, ID, renal association
Cockayne syndrome AR Premature aging, SNHL, Cut PS
40. Work up in a CC case
U/L cataract extensive work up not recommended
Why ? mostly sporadic and isolated
Non hereditary
usually with PFV
without systemic or genetic association
Zena Lim Pediatric Cataract: The Toronto Experience—Etiology, AJO,Volume 149, Issue 6,2010,
41. Approach in CC
Detailed History
Antenatal and natal h/o
Febrile illness with rash
Drug intake
Irradiation
Birth h/o
Birth weight
Birth asphyxia
family h/o with 3G pedigree
Development h/o
Metabolic cause
Systemic cause
Opthal history
Onset
Laterality
Progression
42. Examination
“Preverbal” checking for acuity: Fixation behaviour,
Fixation preference, Objection to occlusion
“Glare” test: Central posterior cataract.
Significant reduction in acuity in bright light.
esp while driving at night
43.
44. White reflex ( Leukocoria )
60% associated with CC
18% U/L and 42% B/L
Other DD RB
RD
B/L PHPV
Coats disease
ROP
J Pediatr Ophthalmol Strabismus. 2008 May-Jun;45(3)
45. Other CF
Abnormal visual behaviour
Strabismus
Nystagmus
Risk factors of poor visual outcome
48. Visually significant cataract
Very dense, obscuring Fundus
Central cataract > 3mm in diameter
U/L cataract with Strabismus
B/L cataract with Nystagmus
Cataract
Static anterior pole, nuclear Cx
Progressive Better prognosis. Start to obscure vision after
“critical period” of vision development.
Can be missed in examination
Absolute
indication for surgery
50. Family Slit lamp examination
female carriers also may have lenticular changes
Genetic work up
50% cases genetic AD is MC trait
>110 gene
Detection rate : 70-80% isolated Cx
63% Syndromic cases
15% IEM
51.
52. Vision screening
UK National screening committee 2020
1st examination : all newborns red reflex (within 72hrs)
2nd examination: 6-8 weeks (~vaccination time)
All positive seen by ophthalmologist by 2 weeks
Examination NAIP. Newborn and infant physical examination: Program Handbook,2020.
53. Treatment options
Surgery and IOL placement depend on age
IATS 2020 (Infant Aphakia Treatment Study) 114 sample
size
Surgery time
U/L dense CC 6-8 weeks (4-6 weeks, 2019)
B/L dense CC 6-10 weeks ( 8 weeks, 2019)
Cataract management in children: a review of the literature and
current practice across five large UK centres. 2020
54. Less than 1month high chance of aphakic glaucoma
Vishwanath M, Cheong-Leen R, Taylor D, et al. Is early surgery for
congenital cataract a risk factor for glaucoma? Br J Ophthalmol. 2004; 88: 905-910.
high chance of < 4 weeks ---6 weeks---- 8 weeks> high chance of
aphakic glaucoma deprivation amblyopia
sensory
56. IOL placement
<2 years : no IOL recommended why ? (<1 year, 2019)
1. No improvement in vision outcome
2. Small capsule to hold IOL
3. ↑ Chance of reopacification of visual axis
4. No added protection 2◦ glaucoma
5. High reoperation rate compared to aphakic group
“Secondary IOL is better than Primary IOL”
Cataract management in children: a review of the literature and
current practice across five large UK centres. 2020
58. Ectopia lentis
Dislocation lens Lens patellar fossa
Luxation Outside
Subluxation Within
Ex: Marfan, HC, WMS, HEL without systemic features
Sulfite oxidase def, hyperlysinemia, Refsum disease
59.
60.
61. Galactosemia
Elevated galactose galactonate and galactitol
CF: poor feeding/FTT/ Hypoglycemia, seizures, HSM,
cataract, sepsis (Ecoli sepsis)
Early galactose free diet can reverse lens clouding
Deposit in lens
“oil drop cataract”
(nuclear cataract)
Type Enzyme
I G 1 PO4 UT (GALT)
II GK (GALK1)
III UDP G 4 epimerase (GALE)
63. Condition Trait Features
Hyper ferritenemia cataract syndrome AD Raised ferritin
Warburg micro syndrome (1/2/3) AR Microcephaly, hypogonadism, DD, ID
Martsolf syndrome AR Less severe form WMS
Hallerman steriff syndrome AR Short stature, hypotrichosis, dental
Rothmund Thomson syndrome AR Poikiloderma, radial defect
SLOS AR Dysmorphism, limb, DD, ID, genital
Lathosterolosis AR Dysmorphism, limb, DD, ID, genital
64. Condition Trait Features
Norrie disease XLR HL, ID, DD, facial dysmorphism
Nance Hooran syndrome XLD Dental anomalies, dysmorphism, ID
Lowe syndrome XL Hypotonia, ID, renal association
Cockayne syndrome AR Premature aging, SNHL, Cut PS
65. Hyperferritinemia Cx syndrome
Over translation “ferritin mRNA”
FTL gene (19 q 13.33)
Hyperferritinemia (Ferritin L) without Iron overload
Crystallisation of ferritin in lens
“bread crumb like opacity” nucleus and cortex