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Ans.189
*Sotos syndrome*
Cerebral gigantism with excessive growth in first 2-3 years of life, mild mental retardation, and
delayed development; associated with mutation in NSD1.
Cerebral gigantism with excessive growth in first 2-3 years of life, mild mental retardation, and
delayed development; associated with mutation in NSD1.
Ans.188
*Currarino syndrome*
Childhood familial idiopathic osteoarthropathy. Due to mutation in HLXB9 homeobox gene. Currarino syndrome has an autosomal dominant pattern of inheritance.Usually the sacrum is not formed properly, there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum . It can also cause an anterior meningocele or a presacral teratoma.
Childhood familial idiopathic osteoarthropathy. Due to mutation in HLXB9 homeobox gene. Currarino syndrome has an autosomal dominant pattern of inheritance.Usually the sacrum is not formed properly, there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum . It can also cause an anterior meningocele or a presacral teratoma.
Ans.187
*Somogyi phenomenon*
Rebound hyperglycemia following an episode of hypoglycemia due to counterregulatory hormone
release.
Rebound hyperglycemia following an episode of hypoglycemia due to counterregulatory hormone
release.
Ans.186
*Curling's ulcers*
Stress erosions and ulcers occurring in the proximal duodenum and associated with severe burns or
trauma, from ischemia of the gastric mucosa.
Stress erosions and ulcers occurring in the proximal duodenum and associated with severe burns or
trauma, from ischemia of the gastric mucosa.
Ans.185
*Kostmann syndrome*
Severe congenital neutropenia, associated with mutation in ELA2 (elastase). Characterized
typically by a granulopoeisis impairment at the promyelocyte stage; risk of evolution to MDS or
AML, responds to G-CSF.
Severe congenital neutropenia, associated with mutation in ELA2 (elastase). Characterized
typically by a granulopoeisis impairment at the promyelocyte stage; risk of evolution to MDS or
AML, responds to G-CSF.
Ans.184
*Sneddon-Wilkinson
disease*
Subcorneal pustular dermatosis; rare, chronic , recurrent pustular eruption characterized by
subcorneal pustules that contain abundant neutrophils.
disease*
Subcorneal pustular dermatosis; rare, chronic , recurrent pustular eruption characterized by
subcorneal pustules that contain abundant neutrophils.
Ans.183
*Cullen's sign*
A faintly blue coloration, particularly of the umbilicus, as a result of retroperitoneal bleeding from
any cause, but especially in ruptured ectopic pregnancy. Also seen in acute pancreatitis (1-2%).
A faintly blue coloration, particularly of the umbilicus, as a result of retroperitoneal bleeding from
any cause, but especially in ruptured ectopic pregnancy. Also seen in acute pancreatitis (1-2%).
Ans.182
*Foster Kennedy syndrome* Optic atrophy, contralateral papilledema,
and anosmia; may be associated with olfactory groove meningioma.
and anosmia; may be associated with olfactory groove meningioma.
Ans.181
*Dunnigan syndrome* Face-sparing partial lipodystrophy, loss of
subcutaneous fat and increasein visceral fat, causing muscular
appearance in arms and legs, due to mutation in laminin A/C.
subcutaneous fat and increasein visceral fat, causing muscular
appearance in arms and legs, due to mutation in laminin A/C.
Ans.180
*Kartagener's syndrome* A triad of sinusitis, bronchiectasis, and
situs inversus; also associated with ciliary dysfunction; Manes
Kartagener, Swiss physician, 1897-1975.
situs inversus; also associated with ciliary dysfunction; Manes
Kartagener, Swiss physician, 1897-1975.
Ans.179
*Heiner syndrome* Cow milk allergy associated with pulmonary
infiltrates, pulmonary hemosiderosis,anemia, recurrent pneumonia and
failure to thrive.
infiltrates, pulmonary hemosiderosis,anemia, recurrent pneumonia and
failure to thrive.
Ans.178
*Freiberg disease* Osteochondrosis of second metatarsal head;
associated with avascular necrosis of metatarsal head; most patients
are female.
associated with avascular necrosis of metatarsal head; most patients
are female.
Ans.177
*Asperger's disorder *
An autistic spectrum disorder with
severe and sustained impairment in
social interactions and the
development of restricted, repetitive
patterns of behavior, interests, and activities, but intellectually
normal and no language delays, but
with abnormalities of spoken
language.
An autistic spectrum disorder with
severe and sustained impairment in
social interactions and the
development of restricted, repetitive
patterns of behavior, interests, and activities, but intellectually
normal and no language delays, but
with abnormalities of spoken
language.
Ans.176
*Bartter's syndrome *
Hypokalemic, hypochloremic metabolic alkalosis with normal or
low blood
pressure despite
increased renin and aldosterone
levels and hyperplasia of
juxtaglomerular apparatus due to
mutations affecting diuretic-sensitive
sodium-transport proteins.
Hypokalemic, hypochloremic metabolic alkalosis with normal or
low blood
pressure despite
increased renin and aldosterone
levels and hyperplasia of
juxtaglomerular apparatus due to
mutations affecting diuretic-sensitive
sodium-transport proteins.
Ans.175
*Bezold-Jarisch reflex *
Activation of receptors in the atria,
great veins, and left ventricle causing increased parasympathetic
tone and decreased sympathetic
activity leading to a combination of
hypotension and bradycardia
with a sudden increase in coronary
flow.
Activation of receptors in the atria,
great veins, and left ventricle causing increased parasympathetic
tone and decreased sympathetic
activity leading to a combination of
hypotension and bradycardia
with a sudden increase in coronary
flow.
Ans.174
*Asboe-Hansen sign *
In pemphigus vulgaris, extension of
intact blister when pressure is applied to roof of blister.
In pemphigus vulgaris, extension of
intact blister when pressure is applied to roof of blister.
Ans.173
*Blomstrand dysplasia *
Rare lethal disorder characterized by
an increase in bone density and
advanced skeletal maturation
from inactivating mutation in PTHR-1
gene (see also Jansen metaphyseal chondrodysplasia where
there is an activating mutation).
Rare lethal disorder characterized by
an increase in bone density and
advanced skeletal maturation
from inactivating mutation in PTHR-1
gene (see also Jansen metaphyseal chondrodysplasia where
there is an activating mutation).
Ans.172
*Cabrera's sign*
In left bundle branch block
complicated by myocardial infarction,
notching
at 0.05 s in ascending
limb of S wave in V3, V4; 27% sensitive for MI.
In left bundle branch block
complicated by myocardial infarction,
notching
at 0.05 s in ascending
limb of S wave in V3, V4; 27% sensitive for MI.
Ans.171
*Call-Fleming syndrome *
Sudden-onset severe headache, focal
neurological deficits, and seizures; associated with serotonin
modulating drugs like SSRIs.
Sudden-onset severe headache, focal
neurological deficits, and seizures; associated with serotonin
modulating drugs like SSRIs.
Ans.170
*bobble-head syndrome*
In children with progressive hydrocephalus, rapid, rhythmic
bobbing of the
head.
In children with progressive hydrocephalus, rapid, rhythmic
bobbing of the
head.
Ans.169
*Betz cells *
Large pyramidal cells in layer 5 of
primary motor cortex largest neurons
in
mammalian central nervous system; 30-40,000 Betz cells
in precentral gyrus in one side of the
brain.
Large pyramidal cells in layer 5 of
primary motor cortex largest neurons
in
mammalian central nervous system; 30-40,000 Betz cells
in precentral gyrus in one side of the
brain.
Ans.168
*Bernheim effect*
In aortic stenosis, right ventricular
failure preceding left ventricular
failure from hypertrophied
ventricular septum bulging into and encroaching on right ventricular
filling.
In aortic stenosis, right ventricular
failure preceding left ventricular
failure from hypertrophied
ventricular septum bulging into and encroaching on right ventricular
filling.
Ans.167
*Antley-Bixler syndrome *
Trapezoidocephaly-synostosis
syndrome; characterized by midface
hypoplasia,
humeroradial
synostosis, bowing of femora, fractures; associated with inactivating
mutations in FGFR2;
occasionally associated with
ambiguous genitalia
Trapezoidocephaly-synostosis
syndrome; characterized by midface
hypoplasia,
humeroradial
synostosis, bowing of femora, fractures; associated with inactivating
mutations in FGFR2;
occasionally associated with
ambiguous genitalia
Ans.165
*Krukenberg's tumor* Ovarian metastasis of stomach cancer; characterized by signet ring cancer cells. May also seen in malignancies from colon, breast, and other mucin-gland organs.
Ans.164
*Bennett's fracture *
Fracture of the base of the first
metacarpal with involvement of carpometacarpal joint.
Fracture of the base of the first
metacarpal with involvement of carpometacarpal joint.
Ans.163
*Batten's disease* Neuronal ceroid lipofuscinosis, type 3,
juvenile form. A group of
conditions characterized by
mental impairment, worsening
seizures, and progressive loss of sight
and motor skills related to
buildup of lipopigments.
juvenile form. A group of
conditions characterized by
mental impairment, worsening
seizures, and progressive loss of sight
and motor skills related to
buildup of lipopigments.
Ans.161
161*Binswanger's disease*
Subcortical arteriosclerotic encephalopathy, associated with
hypertension;
characterized by multiple
lacunar infarcts and progressive
demyelination limited to the
subcortical area with characteristic
sparing of cortex.
Subcortical arteriosclerotic encephalopathy, associated with
hypertension;
characterized by multiple
lacunar infarcts and progressive
demyelination limited to the
subcortical area with characteristic
sparing of cortex.
Ans.160
*Ball's disease* Intracerebral leukocytostasis, a
potentially fatal complication of acute
leukemia (especially AML)
when peripheral blast cell count
>100,000/uL; leukemic cells capable
of invading through
endothelium and causing
hemorrhage into brain. Condition not
generally seen
with CLL or CML.
potentially fatal complication of acute
leukemia (especially AML)
when peripheral blast cell count
>100,000/uL; leukemic cells capable
of invading through
endothelium and causing
hemorrhage into brain. Condition not
generally seen
with CLL or CML.
Ans.159
*Angelman syndrome *
"Happy puppet" syndrome; disorder
with severe developmental delay,
frequent laughing, easily
excitable personality; from maternal
deletion of 15q11-13; associated with
mutation in maternally-
imprinted ATP10C, a putative
aminophospholipid translocase.
"Happy puppet" syndrome; disorder
with severe developmental delay,
frequent laughing, easily
excitable personality; from maternal
deletion of 15q11-13; associated with
mutation in maternally-
imprinted ATP10C, a putative
aminophospholipid translocase.
Ans.158
*Burton's line *
Line at the interface of teeth and gums
seen in chronic lead toxicity; from reaction of circulating
lead with sulfur ions released by oral
microbial activity.
Line at the interface of teeth and gums
seen in chronic lead toxicity; from reaction of circulating
lead with sulfur ions released by oral
microbial activity.
Ans.157
*Bruch's membrane*
Basal layer of the choroid between
the choriocapillaris and the retinal
pigment cell layer; deposits
in this membrane in macular degeneration are known as drusen.
Basal layer of the choroid between
the choriocapillaris and the retinal
pigment cell layer; deposits
in this membrane in macular degeneration are known as drusen.
Ans.156
*Brill-Zinser disease * Recrudescent form of epidemic
typhus (*Rickettsiae prowazekii*);
occurs
10-50 years after primary
infection; presents abruptly with
chills, fevers, headache, malaise; rash after 4-6 days after onset of
symptoms.
typhus (*Rickettsiae prowazekii*);
occurs
10-50 years after primary
infection; presents abruptly with
chills, fevers, headache, malaise; rash after 4-6 days after onset of
symptoms.
Ans.155
*pentalogy of Cantrell *
Rare syndrome characterized by
diaphragmatic defect (hernia), cardiac
abnormality, omphalocele,
pericardium malformation/absence,
sternal cleft. X-linked dominant inheritance.
Rare syndrome characterized by
diaphragmatic defect (hernia), cardiac
abnormality, omphalocele,
pericardium malformation/absence,
sternal cleft. X-linked dominant inheritance.
Ans.154
*Capgras syndrome*
Delusional belief that one or a few
highly familiar people have been
replaced by impostors who are
physically very similar to the originals; seen rarely in schizophrenia
Delusional belief that one or a few
highly familiar people have been
replaced by impostors who are
physically very similar to the originals; seen rarely in schizophrenia
Ans.152
*Barrett's esophagus *
Esophageal strictures and epithelial
metaplasia from squamous epithelium
to
a specialized
columnar epithelium with intestinal metaplasia in 10% of severe GERD.
Associated with
predisposition to esophageal
adenocarcinoma.
Esophageal strictures and epithelial
metaplasia from squamous epithelium
to
a specialized
columnar epithelium with intestinal metaplasia in 10% of severe GERD.
Associated with
predisposition to esophageal
adenocarcinoma.
Ans.151
*Apley's law* In pediatrics, the farther a chronically
recurrent abdominal pain is from
the umbilicus, the greater
the likelihood of an organic cause for
the pain.
recurrent abdominal pain is from
the umbilicus, the greater
the likelihood of an organic cause for
the pain.
Ans.150
*Bartholin's gland *
Paired glands located near vaginal opening; maintain moisture of vaginal
vestibular surfaces; can
form abscesses or cysts; homologous
to Cowper's gland; described by
Danish
anatomist Caspar Bartholin in 1677.
Paired glands located near vaginal opening; maintain moisture of vaginal
vestibular surfaces; can
form abscesses or cysts; homologous
to Cowper's gland; described by
Danish
anatomist Caspar Bartholin in 1677.
Ans.149
Blood type O when A or B blood type
expected; these individuals are recessive for H allele and do
not make H antigen; H antigen
required as precursor for A or B
antigen to
be expressed. First
described in Bombay; explains a child with O blood type when a parent is
e.g. AB blood type; rare
phenotype, more common in
consanguineous matings.
expected; these individuals are recessive for H allele and do
not make H antigen; H antigen
required as precursor for A or B
antigen to
be expressed. First
described in Bombay; explains a child with O blood type when a parent is
e.g. AB blood type; rare
phenotype, more common in
consanguineous matings.
Ans.148
(Achenbach's syndrome)
Rare entity of spontaneous or mechanically-induced hematomas on
the volar
aspect of fingers
associated with burning pain and
swelling of the digits.
Rare entity of spontaneous or mechanically-induced hematomas on
the volar
aspect of fingers
associated with burning pain and
swelling of the digits.
Ans.147
If the point of maximum tenderness shifts medially on repositioning the patient to left lateral position them the pain generally gynecological. This sign is used to differentiate gynecological causes from appendicitis.
Ans.146
Oprelvekin is recombinant IL-11, a thrombopoietic growth factor that
directly stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and
induces megakaryocyte maturation.
directly stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and
induces megakaryocyte maturation.
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